RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.
Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N.
Nakayama T, et al. Among authors: kure s.
Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16.
Brain Dev. 2014.
PMID: 23958593