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Article

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

The British journal of dermatology - 1 Sept 1998

Covello S P, Smith F J, Sillevis Smitt J H, Paller A S, Munro C S, Jonkman M F, Uitto J, McLean W H

Abstract excerpt

Pachyonychia congenita type 2 (PC-2; Jackson-Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation-specific keratin expressed in the nail bed, hair follicle, sebaceous gland and other epidermal appendages. Previously, we have demonstrated...

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

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Source

Identifiers

PMID: 9767294
DOI: 10.1046/j.1365-2133.1998.02413.x

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