A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

作者:Ahmad F; Ansar M; Mehmood S; Izoduwa A; Lee K; Nasir A; Abrar M; Mehmood S; Ullah A; Aziz A; Smith J D; Shendure J; Bamshad M J; Nicekrson D A; Santos Cortez R L P; Leal S M; Ahmad W*
来源:Journal of the European Academy of Dermatology and Venereology, 2016, 30(12): E210-E213.
DOI:10.1111/jdv.13540