De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Ghayda M 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 GrippGrazia M S Mancini, Ki Pang, Elizabeth Sweeney, Hilde van Esch, Nienke Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, Kym M Boycott, Daniela T Pilz, M Elizabeth Ross, William B Dobyns, Eamonn G SheridanShow 13 moreShow less