Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation

Abstract

The ichthyoses are rare skin disorders linked by the common finding of scale and concomitant barrier function abnormalities. Recently, mutations in PNPLA1 which encodes patatin-like phopholipase domain containing 1, and plays a role in the formation of the epidermal lipid barrier, have been identified as rare cause of non-syndromic ARCI^1-6.

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