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- Title
Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts.
- Authors
Feng, Y-G; Xiao, S-X; Ren, X-R; Wang, W-Q; Liu, A; Pan, M
- Abstract
Pachyonychia congenita (PC) is a group of autosomal dominant ectodermal dysplasias caused by mutations in four differentiation-specific keratin genes. Two major clinical subtypes of PC have been generally recognized. Symmetrically thickened fingernails and toenails are the defining characteristic of PC type 2 (PC-2) with onset at infancy. Pilosebaceous cysts are the best hallmark of PC-2, but they usually occur at puberty.
- Publication
The British journal of dermatology, 2003, Vol 148, Issue 3, p452
- ISSN
0007-0963
- Publication type
Journal Article
- DOI
10.1046/j.1365-2133.2003.05152.x