A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita

Author:

Liao Haihui,Sayers Jane M.,Wilson Neil J.,Irvine Alan D.,Mellerio Jemima E.,Baselga Eulalia,Bayliss Susan J.,Uliana Vera,Fimiani Michele,Lane E. Birgitte,McLean W.H. Irwin,Leachman Sancy A.,Smith Frances J.D.

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference22 articles.

1. Pachyonychia congenita: a report of six cases in one family with a note on linkage data;Jackson;Ann Eugen,1951

2. Pachyonychia congenita: keratosis disseminata circumscripta (follicularis). Tylomata. Leukokeratosis linguae;Jadassohn,1906

3. Clinical and pathological features of pachyonychia congenita;Leachman;J Investig Dermatol Symp Proc,2005

4. Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2;Ward;Clin Exp Dermatol,2003

5. New consensus nomenclature for mammalian keratins;Schweizer;J Cell Biol,2006

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