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Article

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.

Oral diseases - 1 Oct 2024

Xing Qin, Zhou Qimin, Li Hongyan, Wang Zhongjie, Li Shun, Wu Jiayu, Zhu Huimin, Liang Desheng, Li Zhuo, Wu Lingqian

Abstract excerpt

OBJECTIVE: To investigate the genetic causes of 22 patients with clinically high suspicion of X-linked hypohidrotic ectodermal dysplasia from 20 unrelated Chinese families, expand the spectrum of ectodysplasin-A mutations, and provide more evidence for variants of uncertain significance. SUBJECTS AND METHODS: Whole-exome sequencing was performed and potentially pathogenic variants were verified by Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38129747
DOI: 10.1111/odi.14838

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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