@phdthesis{oai:nagoya.repo.nii.ac.jp:00027647, author = {Kato, Kohji and 加藤, 耕治}, month = {Mar}, school = {名古屋大学, Nagoya University}, title = {MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome}, year = {2019} }