Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
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DOI: 10.1111/exd.14774
Abstract: Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling. Lanosterol synthase (LSS) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in… read more here.
Keywords: mutilating palmoplantar; biallelic mutations; palmoplantar; mutations lss ... See more keywords