Demonstrate haploinsufficiency. Medical search. Frequent questions

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Anatomy5

Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 7 Cranial Sutures Embryo, Mammalian

Organisms5

Mice, Knockout Mice, Mutant Strains Mice, Inbred C57BL Mice, Transgenic Mice, 129 Strain

Diseases55

Abnormalities, Multiple Williams Syndrome Chromosome Deletion Aortic Stenosis, Supravalvular Syndrome Intellectual Disability Smith-Magenis Syndrome Craniofacial Abnormalities Ehlers-Danlos Syndrome Facies Mandibulofacial Dysostosis Alagille Syndrome DiGeorge Syndrome Acrocephalosyndactylia Microcephaly Anemia, Macrocytic Monosomy Disease Models, Animal Anemia, Diamond-Blackfan Cleidocranial Dysplasia 22q11 Deletion Syndrome Limb Deformities, Congenital Nervous System Malformations Chromosome Breakage Neurofibromatosis 1 Wolf-Hirschhorn Syndrome Cri-du-Chat Syndrome Turner Syndrome Carney Complex Hand Deformities, Congenital Telangiectasia, Hereditary Hemorrhagic Anticipation, Genetic Nail-Patella Syndrome Skin Abnormalities Eye Abnormalities Dyskeratosis Congenita Embryo Loss Synostosis Gigantism Waardenburg Syndrome Musculoskeletal Abnormalities Keratoderma, Palmoplantar Translocation, Genetic Agenesis of Corpus Callosum Aniridia Epilepsies, Myoclonic Upper Extremity Deformities, Congenital Growth Disorders Tooth Abnormalities Coloboma Genomic Instability Osteochondrodysplasias Cleft Palate Holoprosencephaly Autoimmune Lymphoproliferative Syndrome

Chemicals and Drugs18

Codon, Nonsense Homeodomain Proteins Transcription Factors Twist Transcription Factor Neurofibromin 1 Paired Box Transcription Factors PAX9 Transcription Factor Collagen Type V DNA-Binding Proteins T-Box Domain Proteins Codon, Terminator Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Elastin Nuclear Proteins Eye Proteins Repressor Proteins Hepatocyte Nuclear Factor 3-gamma Receptor, Notch2

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Pedigree Facies DNA Mutational Analysis Comparative Genomic Hybridization Disease Models, Animal In Situ Hybridization, Fluorescence Gene Targeting Karyotyping

Psychiatry and Psychology2

Intellectual Disability Developmental Disabilities

Phenomena and Processes34

Haploinsufficiency Haploidy Heterozygote Phenotype Mutation Chromosome Deletion Gene Deletion Haplotypes Gene Dosage Codon, Nonsense Frameshift Mutation Genes, Neurofibromatosis 1 Hemizygote Genes, Dominant Chromosomes, Human, Pair 5 Alleles Loss of Heterozygosity Chromosomes, Human, Pair 22 Monosomy Mutation, Missense Chromosome Breakage Base Sequence Codon, Terminator Chromosomes, Human, Pair 7 Sequence Deletion Gene Expression Regulation, Developmental Anticipation, Genetic Genotype Penetrance Nonsense Mediated mRNA Decay Homozygote Translocation, Genetic Signal Transduction Genomic Instability

Information Science2

Base Sequence Molecular Sequence Data

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Information Science

Haploinsufficiency Haploidy Heterozygote Phenotype Abnormalities, Multiple Mutation Williams Syndrome Chromosome Deletion Aortic Stenosis, Supravalvular Syndrome Gene Deletion Intellectual Disability Smith-Magenis Syndrome Mice, Knockout Mice, Mutant Strains Haplotypes Gene Dosage Pedigree Craniofacial Abnormalities Mice, Inbred C57BL Codon, Nonsense Ehlers-Danlos Syndrome Frameshift Mutation Homeodomain Proteins Genes, Neurofibromatosis 1 Facies Hemizygote Mandibulofacial Dysostosis Alagille Syndrome Transcription Factors DiGeorge Syndrome Genes, Dominant Acrocephalosyndactylia Chromosomes, Human, Pair 5 Alleles Loss of Heterozygosity Microcephaly DNA Mutational Analysis Mice, Transgenic Chromosomes, Human, Pair 22 Anemia, Macrocytic Comparative Genomic Hybridization Monosomy Disease Models, Animal Anemia, Diamond-Blackfan Mutation, Missense Cleidocranial Dysplasia 22q11 Deletion Syndrome Twist Transcription Factor Neurofibromin 1 Limb Deformities, Congenital Paired Box Transcription Factors Nervous System Malformations Chromosome Breakage Base Sequence PAX9 Transcription Factor Neurofibromatosis 1 Collagen Type V DNA-Binding Proteins In Situ Hybridization, Fluorescence Wolf-Hirschhorn Syndrome T-Box Domain Proteins Cri-du-Chat Syndrome Codon, Terminator Chromosomes, Human, Pair 7 Cranial Sutures Sequence Deletion Turner Syndrome Gene Expression Regulation, Developmental Molecular Sequence Data Carney Complex Hand Deformities, Congenital Telangiectasia, Hereditary Hemorrhagic Anticipation, Genetic Nail-Patella Syndrome Genotype Skin Abnormalities Cyclic AMP-Dependent Protein Kinase RIalpha Subunit Penetrance Eye Abnormalities Elastin Nuclear Proteins Dyskeratosis Congenita Eye Proteins Nonsense Mediated mRNA Decay Embryo, Mammalian Embryo Loss Synostosis Gigantism Waardenburg Syndrome Mice, 129 Strain Musculoskeletal Abnormalities Homozygote Keratoderma, Palmoplantar Translocation, Genetic Agenesis of Corpus Callosum Aniridia Signal Transduction Gene Targeting Epilepsies, Myoclonic

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