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Article

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

American journal of medical genetics. Part A - 15 Oct 2008

Mégarbané Hala, Cluzeau Céline, Bodemer Christine, Fraïtag Sylvie, Chababi-Atallah Myrna, Mégarbané André, Smahi Asma

Abstract excerpt

We report on an 18-year-old woman, born to first-cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unusual clinical manifestations such as an absence of breasts, a rudimentary extranumerary areola and nipple on the left side, and...

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Source

Identifiers

PMID: 18816645
DOI: 10.1002/ajmg.a.32509

Genes

EDAR
EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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