Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.

Abstract excerpt

Steatocystoma multiplex (SM) is an uncommon disorder, characterized by numerous skin‑colored subcutaneous cysts. A number of SM pedigrees have been identified with mutations in the keratin 17 (KRT17) gene. The present study examined a four‑generation Chinese pedigree with an autosomal dominant mode of inheritance and examined its genetic basis. A review of the literature on KRT17 gene mutations in the SM pedigree...

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