De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, StanislaVolume:
46
Langue:
english
Journal:
Nature Genetics
DOI:
10.1038/ng.2948
Date:
April, 2014
Fichier:
PDF, 1.51 MB
english, 2014
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