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Article

A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.

Orthodontics & craniofacial research - 1 May 2010

Suda N, Bazar A, Bold O, Jigjid B, Garidkhuu A, Ganburged G, Moriyama K

Abstract excerpt

INTRODUCTION: Hypohidrotic ectodermal dysplasia is a genetic disorder characterized by diminished or a lack of sweating, congenital missing teeth, and sparse or absent hair. Three genes, EDA, EDAR, and EDARADD, all related to tumor necrosis factor signaling, have been reported as responsible gene...

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Source

Identifiers

PMID: 20477971
DOI: 10.1111/j.1601-6343.2010.01484.x

Genes

EDARADD
EDA
EDAR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20477971-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.PMID 20477971Read ↗

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A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.Semantic proximity Read ↗

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Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

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