De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
新生CCND2基因突变导致细胞周期蛋白D2稳定，引起巨脑畸形-多小脑回畸形-多指畸形-脑积水综合征。
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/ng.2948
Ghayda Mirzaa # ,David A Parry # ,Andrew E Fry # ,Kristin A Giamanco # ,Jeremy Schwartzentruber ,Megan Vanstone ,Clare V Logan ,Nicola Roberts ,Colin A Johnson ,Shawn Singh ,Stanislav S Kholmanskikh ,Carissa Adams ,Rebecca D Hodge ,Robert F Hevner ,David T Bonthron ,Kees P J Braun ,Laurence Faivre ,Jean-Baptiste Rivière ,Judith St-Onge ,Karen W Gripp ,Grazia Ms Mancini ,Ki Pang ,Elizabeth Sweeney ,Hilde van Esch ,Nienke Verbeek ,Dagmar Wieczorek ,Michelle Steinraths ,Jacek Majewski ,Daniela T Pilz ,M Elizabeth Ross ,William B Dobyns ,Eamonn G Sheridan
