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Article

A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

Clinical genetics - 1 Mar 1998

Hertz J M, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N

Abstract excerpt

Hypohidrotic ectodermal dysplasia (EDA), or Christ-Siemens-Touraine syndrome, is clinically characterized by hypohidrosis, hypoodontia and hypotrichosis. The X-linked form of the disease has been mapped to Xq12-q13.1, and a gene from this region has recently been cloned. This gene encodes a predi...

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Source

Identifiers

PMID: 9630076
DOI: 10.1111/j.1399-0004.1998.tb02678.x

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9630076-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.PMID 9630076Read ↗

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[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo.Semantic proximity Read ↗

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