AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation Science
Ectodermal DysplasiaEctodermal Dysplasia 1, AnhidroticHypohidrosisEctodysplasinsEctodermal Dysplasia, Hypohidrotic, Autosomal RecessiveEdar ReceptorAnodontiaGenes, RecessiveTooth AbnormalitiesReceptors, EctodysplasinEdar-Associated Death Domain ProteinDenture, Partial, RemovableNails, MalformedPedigreeDenture, Complete, LowerHypotrichosisSweat GlandsX ChromosomeConsanguinitySweat Gland DiseasesXedar ReceptorGenetic LinkageMutationSyndromeSyndactylyHeterozygote DetectionEctodermal Dysplasia 3, AnhidroticAbnormalities, MultipleFibrous Dysplasia of BoneImmunologic Deficiency SyndromesPhenotypeCleft LipNail DiseasesMouth AbnormalitiesGenetic Diseases, X-LinkedLimb Deformities, CongenitalBone Diseases, DevelopmentalDentitionHair DiseasesCleft PalateHairBronchopulmonary DysplasiaMutation, MissenseKeratoderma, PalmoplantarPolycystic Kidney, Autosomal RecessiveDenture DesignHand Deformities, CongenitalKeratins, Type IIHomozygoteDNA Mutational AnalysisEctromeliaOsteochondrodysplasiasChromosome MappingIncontinentia PigmentiCodon, NonsenseEllis-Van Creveld SyndromeAlopeciaHyperpigmentationPhotophobiaIntellectual DisabilityFoot Deformities, CongenitalI-kappa B KinaseDenture, CompleteMolecular Sequence DataExonsUterine Cervical DysplasiaFibromuscular DysplasiaRetinitis PigmentosaDenture, PartialEyelidsMembrane ProteinsBase Sequence

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia. (1/2)

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder.  (+info)

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. (2/2)

 (+info)