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Article

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

American journal of human genetics - 2 Nov 2012

Lin Zhimiao, Chen Quan, Shi Lei, Lee Mingyang, Giehl Kathrin A, Tang Zhanli, Wang Huijun, Zhang Jie, Yin Jinghua, Wu Lingshen, Xiao Ruo, Liu Xuanzhu, Dai Lanlan, Zhu Xuejun, Li Ruoyu, Betz Regina C, Zhang Xue, Yang Yong

Abstract excerpt

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a...

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Identifiers

PMID: 23063621
DOI: 10.1016/j.ajhg.2012.08.029
PMCID: PMC3487122

Genes

HOXC13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.PMID 23063621Read ↗

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