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Article

Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.

European journal of dermatology : EJD - 1 Jan 2000

Du Zhen-Fang, Xu Chen-Ming, Zhao Yan, Liu Wen-Ting, Chen Xiao-Ling, Chen Chun-Yue, Fang Hong, Ke Hai-Ping, Zhang Xian-Ning

Abstract excerpt

BACKGROUND: Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK). A new classification system of PC has been adopted based on the mutated gene. PC rarely presents the symptoms of diffuse p...

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Source

Identifiers

PMID: 22668561
DOI: 10.1684/ejd.2012.1773

Genes

KRT16
KRT17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22668561-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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