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Article

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

European journal of human genetics : EJHG - 1 Jan 2010

Mues Gabriele, Tardivel Aubry, Willen Laure, Kapadia Hitesh, Seaman Robyn, Frazier-Bowers Sylvia, Schneider Pascal, D'Souza Rena N

Abstract excerpt

Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We have performed an in vitro functional analysis of six selective tooth agenesis-causing EDA mutations (one novel and five known) that are located in the C-terminal tumor necrosis factor homology...

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Source

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Identifiers

PMID: 19623212
DOI: 10.1038/ejhg.2009.127
PMCID: PMC2795113

Genes

EDA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.PMID 19623212Read ↗

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