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Article

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.

Clinical and experimental dermatology - 1 May 2002

O'Driscoll J, Muston G C, McGrath J A, Lam H M, Ashworth J, Christiano A M

Abstract excerpt

Vohwinkel syndrome (VS) is a family of genodermatoses which exhibits extensive clinical and genetic heterogeneity. Here, we studied a pedigree originating from the UK with typical features of the ichthyotic variant of VS and identified a recurrent insertion mutation in the loricrin gene resulting...

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Identifiers

PMID: 12072018
DOI: 10.1046/j.1365-2230.2002.01031.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12072018-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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