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Article

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Nature genetics - 1 May 1996

Maestrini E, Monaco A P, McGrath J A, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks D E, Lathrop M, Uitto J, Christiano A M

Abstract excerpt

Terminal keratinocyte differentiation involves coordinated expression of several functionally interdependent genes, many of which have been mapped to the epidermal differentiation complex (EDC) on chromosome 1q21. We have identified linkage of Vohwinkel's syndrome in an extended pedigree to markers flanking the EDC region with a maximum multipoint lod score of 14.3. Sequencing of the loricrin gene revealed an...

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PMID: 8673107
DOI: 10.1038/ng0596-70

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.PMID 8673107Read ↗

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