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Article

Keratin K6c mutations cause focal palmoplantar keratoderma.

The Journal of investigative dermatology - 1 Feb 2010

Wilson Neil J, Messenger Andrew G, Leachman Sancy A, O'Toole Edel A, Lane E Birgitte, McLean W H Irwin, Smith Frances J D

Abstract excerpt

The palmoplantar keratodermas (PPKs) are a large group of clinically and genetically heterogeneous genodermatoses. The gene defects underlying many PPKs still need to be resolved to facilitate definitive molecular diagnosis and genetic counseling. Dominant-negative mutations in any of the four identified keratin genes, KRT6A, KRT6B, KRT16, or KRT17, cause pachyonychia congenita (PC), characterized by hypertrophic...

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

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Source

Identifiers

PMID: 19609311
DOI: 10.1038/jid.2009.215

Genes

KRT16
KRT17

Variants

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.

Related research

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Keratin K6c mutations cause focal palmoplantar keratoderma.PMID 19609311Read ↗

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.Semantic proximity Read ↗

Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma.Semantic proximity Read ↗

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.Semantic proximity Read ↗

A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.Semantic proximity Read ↗

A large mutational study in pachyonychia congenita.Semantic proximity Read ↗

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.Semantic proximity Read ↗

The phenotypic and molecular genetic features of pachyonychia congenita.Semantic proximity Read ↗

Identification of clinically useful predictive genetic variants in pachyonychia congenita.Semantic proximity Read ↗

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.Semantic proximity Read ↗

A KRT6A Mutation p.Ile462Asn In A Chinese Family With Pachyonychia Congenita, And Identification of Maternal MosaicismSemantic proximity Read ↗

The molecular genetic analysis of the expanding pachyonychia congenita case collection.Semantic proximity Read ↗

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.Semantic proximity Read ↗

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