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Article

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

Journal of the American Academy of Dermatology - 1 Oct 2012

Eliason Mark J, Leachman Sancy A, Feng Bing-jian, Schwartz Mary E, Hansen C David

Abstract excerpt

BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification schemes have relied on data from case series and case reports. Most patients in these reports were not genetically tested for PC. OBJECTIVE: We sought to clarify the prevalence of clinical features associated with PC. METHODS: We surveyed 254...

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Source

Identifiers

PMID: 22264670
DOI: 10.1016/j.jaad.2011.12.009

Genes

KRT17

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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