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.

Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M.

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Department 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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Related citations in PubMed

Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity. [J Dermatol. 2006]
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Cited by 1 PubMed Central article

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Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.
Wojcik SM, Longley MA, Roop DR. J Cell Biol. 2001 Aug 6; 154(3):619-30.

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