LAUSR

Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

Sign Up to like & get
recommendations!
0 Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"

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