De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Nature Genetics2014Vol. 46(5), pp. 510–515
Citations Over TimeTop 10% of 2014 papers
Ghayda Mirzaa, David Parry, Andrew E. Fry, Kristin A. Giamanco, Jeremy Schwartzentruber, Megan R. 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 M.S. Mancini, Ki Pang, Elizabeth Sweeney, Hilde Van Esch, Nienke E. Verbeek, Dagmar Wieczorek, Michelle Steinraths, Jacek Majewski, Kym M. Boycott, Daniela T. Pilz, M. Elizabeth Ross, William B. Dobyns, Eamonn Sheridan
Related Papers
- → Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis(2012)236 cited
- → Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome(2012)8 cited
- → Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation(2016)7 cited
- → Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis(2020)2 cited
- → Megalencephaly-capillary malformation-polymicrogyria syndrome(2020)