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J Invest Dermatol. 1999 Nov;113(5):848-50.

Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.

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  • 1Department of Dermatology, Columbia University, College of Physicians & Surgeon, New York, New York 10032, USA.

Abstract

Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.

PMID:
10571744
[PubMed - indexed for MEDLINE]
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