Article
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
The Journal of investigative dermatology - 1 Feb 1997
Smith F J, Corden L D, Rugg E L, Ratnavel R, Leigh I M, Moss C, Tidman M J, Hohl D, Huber M, Kunkeler L, Munro C S, Lane E B, McLean W H
Abstract excerpt
Pachyonychia congenita (PC) is a group of autosomal dominant ectodermal dysplasias in which the main phenotypic characteristic is hypertrophic nail dystrophy. In the Jackson-Lawler form (PC-2), pachyonychia is accompanied by multiple pilosebaceous cysts, natal teeth, and hair abnormalities. By direct sequencing of genomic PCR products, we report heterozygous K17 missense mutations in the same conserved protein...
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