Article
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
The Journal of investigative dermatology - 1 May 2011
Fu Teresa, Leachman Sancy A, Wilson Neil J, Smith Frances J D, Schwartz Mary E, Tang Jean Y
Abstract excerpt
Pachyonychia congenita (PC) is a rare, autosomal dominant keratin disorder caused by mutations in four genes (KRT6A, KRT6B, KRT16, or KRT17). The International PC Research Registry is a database with information on patients' symptoms as well as genotypes. We sought to describe the heterogeneity of clinical symptoms and to investigate possible genotype-phenotype correlations in patients with two types of K16...
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