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Article

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

The Australasian journal of dermatology - 1 Feb 2011

Bibi Nosheen, Ahmad Saeed, Ahmad Wasim, Naeem Muhammad

Abstract excerpt

Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic...

Topics

Consanguinity
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Female
Genes, Recessive
Genetic Predisposition to Disease
Genotype
Humans
Male
Mutation, Missense
Pakistan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Sequence Analysis, DNA

Source

Identifiers

PMID: 21332691
DOI: 10.1111/j.1440-0960.2010.00685.x

Genes

EDAR
EDARADD
EDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.PMID 21332691Read ↗

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Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

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