MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.
Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S.
Kato K, et al. Among authors: ozawa h.
J Med Genet. 2019 Jun;56(6):388-395. doi: 10.1136/jmedgenet-2018-105487. Epub 2018 Dec 20.
J Med Genet. 2019.
PMID: 30573562