A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.
Nakamura K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H, Jinnou H, Ohki S, Yokochi K, Okanishi T, Enoki H.
Nakamura K, et al. Among authors: ohki s.
Brain Dev. 2014 Mar;36(3):272-3. doi: 10.1016/j.braindev.2013.03.007. Epub 2013 Apr 25.
Brain Dev. 2014.
PMID: 23623288
No abstract available.