A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy
Nguyen, Lam Son, Schneider, Taiane, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Verny, Florine, Boddaert, Nathalie, Desguerre, Isabelle, Munich, Arnold, Rosa, José Luis, Cormier-Daire, VLanguage:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2015.140
Date:
July, 2015
File:
PDF, 1.01 MB
english, 2015