Genes recessive. Medical search. Frequent questions

Detection of mutation in the ASPM gene in a family segregating autoso- mal recessive primary microcephaly. (nih.gov)
A frame-shift mutation (c.6527insC) in the exon 80 of COL7A1 gene is present in 46% of the Spanish population of patients with RDEB. (uc3m.es)
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. (scilifelab.se)
Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with hypotrichosis without woolly hair in one family. (scilifelab.se)
HCM is inherited as an autosomal dominant trait and, in about 40% of patients, the causal mutation is identified in genes encoding sarcomere proteins. (mdpi.com)
1 Some of these, such as the MC1R 2 and ASIP 3 genes, have been fairly well studied and useful information has been obtained by examining mutation patterns at these loci. (creation.com)
In this study, we documented a clinical and molecular investigation of a consanguineous Pakistani family segregating LGMD in an autosomal recessive form and identified a novel homozygous missense mutation in the TTN gene located on chromosome 2q31.2. (biomedcentral.com)
To the best of our knowledge the molecular studies on mutation in the TTN gene is reported for the first time from Pakistan. (biomedcentral.com)
The mutation followed a Mendalian pattern with an autosomal recessive inheritance mode. (illumina.com)
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (nature.com)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. (nature.com)
It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
you have also found that the mutation, which you call i*, is in the i gene. (wikiversity.org)
One or both of the genes in a pair can carry a mutation and fail to function properly. (healthwise.net)
In an autosomal recessive condition, both chromosomes in a pair must have a mutation for the person to have the disease. (healthwise.net)
If only one gene carries a mutation, the person is a carrier of the condition but does not have any symptoms. (healthwise.net)
A 25% chance in each pregnancy that their child will inherit the mutation from each parent (two genes) and have the condition. (healthwise.net)
What today is recognized as the Levine-Critchley syndrome is caused by a mutation in a specific gene called chorein (also called VPS13A ). (medscape.com)
it is caused by a mutation in the PKHD1 gene, located in chromosome 6p21. (msdmanuals.com)
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. (lu.se)
A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease. (lu.se)
Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)

This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP). (lu.se)
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome. (cdc.gov)

Although high IgE levels were found to be determined by a recessive major gene in several studies, other modes of inheritance were also reported. (ox.ac.uk)
ORs and their reported 95% confidence interval (CI) for dominant and recessive inheritance models were extracted from final retrieved studies. (waocp.com)
The contributions of these multiple genes to most common diseases can be captured under the heading of polygenic inheritance , in which additive effects of numerous genes create a normal distribution of disease risk in the population that can be quantified using additive genetic risk scores. (cdc.gov)

The aim of this meta-analysis was to discover the effect of dominant and recessive genetic models of LSP1 gene rs3817198 polymorphism on breast cancer risk. (waocp.com)

Autosomal recessive polycystic kidney disease (ARPKD) is the most common heritable cystic renal disease occurring in infancy and childhood. (medscape.com)
Ultrasonography is the primary radiologic modality for the evaluation of autosomal recessive polycystic kidney disease (ARPKD), especially during the perinatal and neonatal periods. (medscape.com)
Autosomal recessive diseases include Tay-Sachs disease, cystic fibrosis, sickle cell disease, autosomal recessive polycystic kidney disease (ARPKD), and phenylketonuria (PKU). (healthwise.net)
Diagnosis of autosomal recessive polycystic kidney disease may be difficult, especially without a family history. (msdmanuals.com)

Retinitis pigmentosa (RP), which occurs in about 1 in 3000-7000 people in Spain, is inherited in an autosomal dominant manner in 12% of cases, in an autosomal recessive way in 39%, and in an X linked manner in 4% of cases. (bmj.com)
It tends to be inherited in an autosomal recessive fashion. (nih.gov)
DFNA11 is inherited in an autosomal dominant pattern, which means only one mutated copy of the MYO7A gene in each cell is sufficient to cause the condition. (medlineplus.gov)
DFNB2 is inherited in an autosomal recessive pattern, which means both copies of the MYO7A gene are mutated in each cell. (medlineplus.gov)
[ 5 ] DTDST is inherited in an autosomal recessive manner. (medscape.com)

By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics 1 . (spectrumnews.org)
Our genetics experts explain how genes are passed from one generation to the next and why traits may skip a generation. (familyeducation.com)
as with a lot of things when it comes to genetics, in reality, eye color is more complicated than this as it is not inherited via a single gene but multiple ones that all interact with each other. (familyeducation.com)
As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

By extending the linkage analysis to 13 families with AR-JP, we discovered strong evidence for the localization of the AR-JP gene at chromosome 6q25.2-27, including the SOD2 locus, with the maximal cumulative pairwise LOD scores of 7.26 and 7.71 at D6S305 (theta = .03) and D6S253 (theta = .02), respectively. (nih.gov)
The deactivated X chromosome is silenced by repressive heterochromatin that compacts the DNA and prevents expression of most genes. (wikipedia.org)
There is a gene in the Y chromosome that has regulatory sequences that control genes that code for maleness, called the SRY gene. (wikipedia.org)
KEY MESSAGE The diploid wheat recessive stem rust resistance gene SrTm4 was fine-mapped to a 754-kb region on chromosome arm 2AmL and potential candidate genes were identified. (bvsalud.org)
Viruses could tinker with gene structure, in many settings, exerting largely the same effects in males and females at the same time and at the same point on the chromosome, and do so to large numbers at once, and produce a large cluster of organisms that can breed with each other but not with the parent stock. (behavior.net)
Each chromosome contains genes. (healthwise.net)
X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
This gene, which codes for a sulfate transporter protein, has been mapped to distal end of chromosome bands 5q31-q34. (medscape.com)

Regions of chromosomes that carry an identical genetic sequence from each parent are likely to harbor recessive mutations. (spectrumnews.org)
The human sex chromosomes, a typical pair of mammal allosomes, carry the genes that determine the sex of an individual created in sexual reproduction. (wikipedia.org)
Autosomes are homologous chromosomes i.e. chromosomes which contain the same genes (regions of DNA) in the same order along their chromosomal arms. (wikipedia.org)
Autosomal recessive conditions are genetic diseases that are passed to a child through both parents' chromosomes. (healthwise.net)
These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)

The large number of RP genes identified can be grouped into a number of functional classes: (1) proteins of the visual cascade, (2) proteins of the visual cycle, (3) photoreceptor cell transcription factors, (4) proteins related to catabolic processes, and (5) genes of unknown function. (bmj.com)
In 4 of the 16 individuals, the researchers found recessive mutations that affect brain-related proteins. (spectrumnews.org)
These genes code for proteins that form the sex organs in flowers. (wikipedia.org)
Mutations in these genes affect proteins involved in the signaling pathway for pigment production and explain a large amount of the color variation in mammals. (creation.com)
The MYO7A gene provides instructions for making a protein called myosin VIIA, which is part of a group of proteins called unconventional myosins. (medlineplus.gov)

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. (ucdenver.edu)
In rare cases, Sarc− HCM cases may be caused by pathogenic variants in non-sarcomeric genes. (mdpi.com)
Our study concludes that WES is a successful molecular diagnostic tool to identify pathogenic variants in large genes such as TTN in highly inbred population. (biomedcentral.com)

HINT1 gene mutations that cause autosomal recessive axonal neuropathy with neuromyotonia lead to production of a HINT1 protein with little or no function. (medlineplus.gov)
Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. (scilifelab.se)

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. (ucdenver.edu)
Table 1 summarizes the association between genetic variants of autophagy-related genes and selected human diseases. (nature.com)
In the past two decades, however, genome-wide association studies (GWAS) have uncovered many variants throughout the human genome in multiple genes, each with modest increased risk (e.g., relative risks of 1.1 or 1.2) acting together and along with environmental factors to cause common diseases. (cdc.gov)
Genetic variants in TNFa, TGFB1, PTGS1 and PTGS2 genes are associated with diisocyanate -induced asthma. (cdc.gov)
A case-control study was conducted to investigate whether genetic variants in inflammatory response genes (TNFa, IL1a, IL1B, IL1RN, IL10, TGFB1, ADAM33, ALOX-5, PTGS1, PTGS2 and NAG-1/GDF15) are associated with increased susceptibility to diisocyanate asthma (DA). (cdc.gov)
Heterozygous Urinary Abnormality-Causing Variants of COL4A3 and COL4A4 Affect Severity of Autosomal Recessive Alport Syndrome. (cdc.gov)
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. (cdc.gov)

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. (springer.com)
These genes were selected based on their role in asthmatic inflammatory processes and previously reported associations with asthma phenotypes. (cdc.gov)
Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)

Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans. (nature.com)
The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (who.int)

Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated with several muscle disorders, including cardiomyopathy, recessive congenital myopathies and limb-girdle muscular dystrophy (LGMD) type10. (biomedcentral.com)
The prevalence of autosomal recessive muscle disorders like LGMD and congenital muscular dystrophies are rare in Pakistani populations. (biomedcentral.com)
Such factors include a tradition of consanguineous marriage , which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. (who.int)

However, other individuals diagnosed with DFNB2 never develop retinitis pigmentosa, and recent studies indicate that DFNB2 and Usher syndrome probably result from different mutations in the MYO7A gene. (medlineplus.gov)

Newly diagnosed with Autosomal recessive hypophosphatemic rickets? (globalgenes.org)

To date, 17 genes have been known as an underlying cause of MCPH in humans. (nih.gov)
This gene produces a testis-determining factor ("TDF"), which initiates testis development in humans and other mammals. (wikipedia.org)
An enzyme that in humans encoded by the TPP1 gene. (bvsalud.org)

Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. (nih.gov)
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. (medlineplus.gov)
MPYCD is an autosomal recessive disorder caused by defects in the mitochondrial pyruvate carrier complex (Bricker et al. (preventiongenetics.com)
A rare autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia slow growth/short stature bone pain and skeletal deformities. (globalgenes.org)
Genetic changes in the CHRNG gene cause most cases of this disorder. (nih.gov)
Specifically, MYO7A gene mutations cause a form of the disorder known as Usher syndrome type IB (USH1B), which accounts for more than half of all cases of Usher syndrome type I. (medlineplus.gov)
OMIM 241410)] is an authors (to avoid confusion and to main- autosomal recessive disorder first reported tain consistency). (who.int)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)
Diastrophic dysplasia is an autosomal recessive disorder and occurs with equal frequency in males and females. (medscape.com)

An autosomal recessive form of juvenile Parkinsonism (AR-JP) (MIM 600116) is a levodopa-responsive Parkinsonism whose pathological finding is a highly selective degeneration of dopaminergic neurons in the zona compacta of the substantia nigra. (nih.gov)
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. (ox.ac.uk)

However, direct evidence of the connections between ATG gene dysfunction and human diseases has emerged only recently. (nature.com)
There are an increasing number of reports showing that mutations in the ATG genes were identified in various human diseases such as neurodegenerative diseases, infectious diseases, and cancers. (nature.com)
Here, we review the major advances in identification of mutations or polymorphisms of the ATG genes in human diseases. (nature.com)
Indeed, genome-wide studies have identified disease-associated loci and genes in many human diseases. (nature.com)
As in many other diseases, there is considerable clinical heterogeneity in these syndromes, which may be caused by environmental interactions as well as the background of other genes and other diseases in the patient. (medscape.com)
Increased knowledge of genomics over the past two decades has made it apparent that the traditional category of genetic diseases represents only those conditions in which the genetic contribution is particularly marked, whereas in fact diseases can be arrayed along a spectrum representing the varied contribution of genes and the environment. (who.int)
Others can arise from the presence of an abnormal gene in any autosome: if the gene is dominant, it results always in what is called a dominant condition, whereas if it is recessive many of these diseases appear only when the gene is inherited from both parents (and are thus called recessive conditions). (who.int)

Salamon, T. Über eine Familie mit recessiver Kraushaarigkeit, Hypotrichose und anderen Anomalien [On a family with the recessive trait of woolly hair, hypotrichosis and other anomalies]. (nature.com)

Taking a more scientific approach, we can explain this by considering that many genes come in different versions, also called alleles. (familyeducation.com)
Alleles can be dominant (strong) or recessive (weak). (familyeducation.com)
Ginger or red hair is caused by inheriting two recessive alleles. (familyeducation.com)

The different genes that have been implicated in retinal degeneration are known or assumed to be expressed in the photoreceptor cells of the retina or in the retinal pigment epithelium (RPE). (bmj.com)
There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)

Among the different subtypes described, the Recessive Dystrophic Epidermolysis Bullosa (RDEB) is the most severe subtype, with an increased risk of developing squamous cell carcinoma (SCC). (uc3m.es)

Diploid wheat, Triticum monococcum (genome Am), has been utilized previously for the introgression of stem rust resistance genes Sr21, Sr22, and Sr35. (umn.edu)

2012). The MPC1 gene encodes for an inner mitochondrial membrane protein that interacts with MPC2 (BRP44) to form the multimeric mitochondrial pyruvate carrier complex essential for transport of pyruvate into the mitochondria. (preventiongenetics.com)
The DJ-1 gene encodes a ubiquitous, highly conserved protein. (ox.ac.uk)
This complex gene codes for a complex protein important in a number of pathways. (creation.com)
This complex organization of the gene reflects the complex nature of the protein receptor it produces. (creation.com)
Leukocyte-specific protein 1 (LSP1) gene is located on 11p15.5 and encodes an F-actin binding protein. (waocp.com)
In all cases, we discovered pathogenic mutations in P2RY5 , which encodes a G protein-coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 ( RB1 ) gene. (nature.com)
Other genetic changes delete a small amount of DNA from critical regions of the MYO7A gene, which probably changes the structure of the protein. (medlineplus.gov)

This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. (nih.gov)

The researchers also sequenced the four candidate genes in another 418 individuals with autism and 371 controls, all from the ARRA Autism Sequencing Collaborative. (spectrumnews.org)
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. (nih.gov)

Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)

Recessive traits are more likely to skip generations. (familyeducation.com)

Recently, precise gene modification technologies based on genomic nucleases have been developed, such as TALENs and CRISPR/Cas9. (uc3m.es)

Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes. (ucdenver.edu)
This single cell will undergo cell division and multiply many, many times to form a baby, who will have a genome made up of a mixture of genes inherited from its mother and father. (familyeducation.com)

Researchers have identified several MYO7A gene mutations that can cause nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. (medlineplus.gov)
Mutations in this gene are thought to cause two forms of nonsyndromic hearing loss: DFNA11 and DFNB2. (medlineplus.gov)

Newly diagnosed with Autosomal recessive myosin storage myopathy? (globalgenes.org)

In addition to their classic association with CRB1 mutations, other genes are implicated. (lu.se)

Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders inherited as an autosomal recessive or dominant pattern. (biomedcentral.com)
it is updated every other year to include new disorders or disease-causing genes. (springer.com)

By linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2), we found a family with AR-JP showing perfect segregation of the disease with the SOD2 locus. (nih.gov)
According to our findings, it seems that LSP1 gene rs3817198 polymorphism is associated with breast cancer risk and this risk is more prominent in Caucasians. (waocp.com)
LSP1 gene rs3817198T>C polymorphism has been studied in many kinds of literature. (waocp.com)
Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)

Red hair can be considered a recessive trait. (familyeducation.com)
Our results suggest that this gene, which accounts for 28% of the variation of the trait, may be involved in the control of basal IgE production, independently of specific response to allergens. (ox.ac.uk)

Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)

Both parents of an affected individual are carriers of the abnormal gene but are clinically healthy. (medscape.com)

However, mutations in the beta subunit of the rod cGMP-phosphodiesterase gene, 8- 11 in the ATP binding cassette receptor gene, 12 in the TULP1 gene, 13 in the alpha subunit of the rod cGMP gated channel, 14 and in the USH2A gene 15 have been detected in a small percentage of Spanish ARRP families. (bmj.com)

We will also sequence the MPC1 gene to determine carrier status. (preventiongenetics.com)

Genes that influence the PHENOTYPE only in the homozygous state. (ucdenver.edu)
To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
Recent work has shown that mice homozygous for Ahl are not only more sensitive to noise , but also are probably damaged in a different manner by noise than mice containing the wild-type gene. (cdc.gov)
All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)

This study aimed to identify the pathogenic variant in a consanguineous Pakistani family with autosomal recessive LGMD type 10. (biomedcentral.com)

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. (lu.se)

PINK1, a gene associated with Parkinson's disease, is not just responsible for the premature death of dopaminergic neurons, it also plays a key role in the neurogenesis of dopamine neurons throughout life. (neurosciencenews.com)
Parkinson's patients carrying mutations in PINK1 and Parkin genes have increased levels of circulating interleukin 6 and mitochondrial DNA. (neurosciencenews.com)

One of these mutations is in UBE3B, which is closely related to UBE3A , the gene mutated in Angelman syndrome . (spectrumnews.org)
When Do Symptoms of Autosomal recessive multiple pterygium syndrome Begin? (nih.gov)
More than 200 mutations in the MYO7A gene have been identified in people with Usher syndrome type I, which is characterized by a combination of hearing loss, vision loss, and problems with balance and coordination. (medlineplus.gov)

Multipathotype seedling tests of biparental populations demonstrated that T. monococcum accession PI 306540 collected in Romania contains a recessive resistance gene effective to all P. graminis f. sp. (umn.edu)
We will refer to this gene as SrTm4, which is the fourth stem rust resistance gene characterized from T. monococcum. (umn.edu)

The KIT gene is rather complex consisting of 21 exons in a 70 kb region. (creation.com)
Exons 2 (first coding exon), 3 (second cod- and Kuwait: the incidence in Saudi Ara- ing exon) and 12 of the TBCE gene were bia varies from 1:40 000 to 1:100 000 live chosen for the initial screening as they were births [ 6 ]. (who.int)

Recessive mutations, however, are only harmful when two copies are inherited, each from one carrier parent. (spectrumnews.org)
Gene sequences from normal and carrier animals were compared using the software, codon code Aligner 4.0.4. (researchgate.net)
A 50% chance in each pregnancy that their child will receive one mutated gene and be a carrier. (healthwise.net)
A 25% chance in each pregnancy that their child will not receive the mutated gene and will not be a carrier or have the condition. (healthwise.net)

Within the candidate region, we identified an L-type lectin -domain containing receptor kinase (LLK1), which was disrupted by the proximal inversion breakpoint, as a potential candidate gene . (bvsalud.org)

The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. (cdc.gov)
The discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene (5) renewed interest in this possibility, as the sensitivity and specificity of testing could be improved through DNA-based testing. (cdc.gov)

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