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Article

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

Journal of dental research - 1 Jun 2013

Nikopensius T, Annilo T, Jagomägi T, Gilissen C, Kals M, Krjutškov K, Mägi R, Eelmets M, Gerst-Talas U, Remm M, Saag M, Hoischen A, Metspalu A

Abstract excerpt

Mutations in the ectodysplasin-A (EDA) gene have been generally associated with X-linked hypohidrotic ectodermal dysplasia (XLHED). Recently, missense mutations in EDA have been reported to cause familial non-syndromic tooth agenesis. In this study, we report a novel EDA mutation in an Estonian family segregating non-syndromic tooth agenesis with variable expressivity. Affected individuals had no associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23603338
DOI: 10.1177/0022034513487210

Genes

EDA
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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