Article
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.
The Journal of investigative dermatology - 1 Feb 2017
Bochner Ron, Samuelov Liat, Sarig Ofer, Li Qiaoli, Adase Christopher A, Isakov Ofer, Malchin Natalia, Vodo Dan, Shayevitch Ronna, Peled Alon, Yu Benjamin D, Fainberg Gilad, Warshauer Emily, Adir Noam, Erez Noam, Gat Andrea, Gottlieb Yehonatan, Rogers Tova, Pavlovsky Mor, Goldberg Ilan, Shomron Noam, Sandilands Aileen, Campbell Linda E, MacCallum Stephanie, McLean W H Irwin, Ast Gil, Gallo Richard L, Uitto Jouni, Sprecher Eli
Abstract excerpt
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T,...
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