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Article

[Molecular genetic study of a family affected with punctate palmoplantar keratoderma].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2017

Jia Yueqin, Wang Shaowei, Zhu Yingyu, Luo Dan

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics and causative mutation in an ethnic Han Chinese family affected with punctate palmoplantar keratoderma (PPPK). METHODS: Clinical characteristics and inheritance pattern of the family were analyzed. Two seriously affected individuals from the family were investigated by whole exome sequencing. Three healthy individuals from the family and 120 non-PPPK individuals...

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Source

Identifiers

PMID: 28604957
DOI: 10.3760/cma.j.issn.1003-9406.2017.03.012

Genes

CELA1

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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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