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Article

Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.

Journal of dental research - 1 Jun 2013

Yang Y, Luo L, Xu J, Zhu P, Xue W, Wang J, Li W, Wang M, Cheng K, Liu S, Tang Z, Ring B Z, Su L

Abstract excerpt

Hypodontia, a tooth developmental disease, can affect chewing and pronunciation. Mutations in the ectodysplasin-A (EDA) gene can lead to both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic hypodontia (NSH). However, the mechanism by which these 2 related but different disorders are caused by the distinct mutations in EDA is unknown. In this study, we identified a novel missense mutation...

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Source

Identifiers

PMID: 23625373
DOI: 10.1177/0022034513487557

Genes

EDA
TNF

Variants

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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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