Article
The genetic basis of pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings - 1 Oct 2005
Smith Frances J D, Liao Haihui, Cassidy Andrew J, Stewart Arlene, Hamill Kevin J, Wood Pamela, Joval Iris, van Steensel Maurice A M, Björck Erik, Callif-Daley Faith, Pals Gerald, Collins Paul, Leachman Sancy A, Munro Colin S, McLean W H Irwin
Abstract excerpt
In 1994, the molecular basis of pachyonychia congenita (PC) was elucidated. Four keratin genes are associated with the major subtypes of PC: K6a or K16 defects cause PC-1; and mutations in K6b or K17 cause PC-2. Mutations in keratins, the epithelial-specific intermediate filament proteins, result in aberrant cytoskeletal networks which present clinically as a variety of epithelial fragility phenotypes. To date,...
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