Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
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DOI: 10.1111/jdv.14618
Abstract: Autosomal recessive congenital ichthyoses (ARCI) are a clinically and genetically heterogeneous group of non-syndromic ichthyoses due to mutations in at least 9 genes, including PNPLA1 (1). PNPLA1 (Patatin-Like Phospholipase Domain-Containing Protein 1) is strongly expressed… read more here.
Keywords: novel pnpla1; mutations two; pnpla1 mutations; recessive congenital ... See more keywords