CCND2

Publications

Mirzaa G et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004;35(6):353-9.  PMID: 15627943.

Mirzaa G et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014;46(5):510-515.  PMID: 24705253.

Mirzaa G. MPPH Syndrome. In: Adam MP et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington. 2016;1993-2019.  PMID: 27854409.