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Article

Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.

The Journal of investigative dermatology - 1 Nov 1999

Celebi J T, Tanzi E L, Yao Y J, Michael E J, Peacocke M

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. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10571744
DOI: 10.1046/j.1523-1747.1999.00762.x

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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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Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.PMID 10571744Read ↗

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Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.Semantic proximity Read ↗

Keratin 16 and keratin 17 mutations cause pachyonychia congenita.Semantic proximity Read ↗

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A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.Semantic proximity Read ↗

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Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.Semantic proximity Read ↗

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