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Article

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

Experimental dermatology - 1 Jun 2000

Smith F J, Fisher M P, Healy E, Rees J L, Bonifas J M, Epstein E H, Tan E M, Uitto J, McLean W H

Abstract excerpt

Pachyonychia congenita type 1 (PC-1) is an autosomal dominant ectodermal dysplasia characterized by nail dystrophy, focal non-epidermolytic palmoplantar keratoderma (FNEPPK) and oral lesions. We have previously shown that mutations in keratin 16 (K16) cause fragility of specific epithelia resulti...

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Identifiers

PMID: 10839714
DOI: 10.1034/j.1600-0625.2000.009003170.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10839714-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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