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Article

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

American journal of medical genetics. Part A - 30 Jul 2003

Lu Yong, Guo Chenhong, Liu Qiji, Zhang Xiyu, Cheng Lin, Li Jiangxia, Chen Bingxi, Gao Guimin, Zhou Haibin, Guo Yishou, Li Yefu, Gong Yaoqin

Abstract excerpt

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom-knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation...

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hand Deformities, Congenital

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Share to Keratoderma, Palmoplantar

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Share to Protein Structure, Secondary

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Source

Identifiers

PMID: 12838553
DOI: 10.1002/ajmg.a.20090

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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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