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Article

Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.

Cancer genetics - 1 Nov 2016

Wang Peng, Kang Xiao-Jing, Tang Xiao-Hui, Liu Jian-Yong, Li Wen-Zheng, Wang Wei-Jia, Liang Sheng-Nan, Feng Yan-Yan, Ding Yuan, Chen Wen-Jing

Abstract excerpt

Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the...

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Source

Identifiers

PMID: 27864007
DOI: 10.1016/j.cancergen.2016.10.002

Genes

KRT9
KRT15

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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