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Pachyonychia congenita Type I

From SNPedia

Pachyonychia congenita Type I is a skin disorder. It is inherited in an autosomal dominant manner, and it is caused by the production of defective keratin proteins. It is quite rare (perhaps affecting ~5,000 people), leading to large (and painful) calluses on hands and feet.

Variations in either the keratin-16 KRT16 gene or the keratin-6A KRT6A have been reported to cause this disorder. These include: