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Article

Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.

European journal of pediatrics - 1 Jun 2014

Dai Limeng, Wu Jun, Guo Hong, Huang Yangming, Zhang Kun, Liu Dan, Fu Liyuan, Wu Yuanyuan, Guan Xingying, Bai Yun, Liao Qiong

Abstract excerpt

UNLABELLED: Pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, is classified into two main clinical subtypes: PC-1 and PC-2. PC-1 is associated with mutations in the KRT6A or KRT16 genes, whereas PC-2 is linked to KRT6B or KRT17 mutations. Blood samples were collected from three generations of a new Chinese PC-1 family, including three PC patients and...

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Source

Identifiers

PMID: 24357266
DOI: 10.1007/s00431-013-2236-8

Genes

KRT16
KRT17

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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Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.PMID 24357266Read ↗

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