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Article

A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.

The Journal of investigative dermatology - 1 Apr 2004

Xiao Sheng-Xiang, Feng Yi-Guo, Ren Xiao-Rong, Tan Sheng-Shun, Li Li, Wang Jun-Min, Shi Yao-Zhou

Abstract excerpt

Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. We report a large Chinese pedigree of typical delayed-onset PC-2 that includes 19 affected members. Direct sequencing of PCR products revealed a novel heterozygous 325A-->G mutation in the...

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Identifiers

PMID: 15102078
DOI: 10.1111/j.0022-202X.2004.22408.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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