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Article

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

BMC medical genetics - 24 Nov 2006

Lind Lisbet K, Stecksén-Blicks Christina, Lejon Kristina, Schmitt-Egenolf Marcus

Abstract excerpt

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis. METHODS: The coding DNA sequence of the EDAR...

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Source

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Identifiers

PMID: 17125505
DOI: 10.1186/1471-2350-7-80
PMCID: PMC1684249

Genes

EDAR

Provenance

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Related research

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EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.PMID 17125505Read ↗

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Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

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