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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
Kato, Kohji, Miya, Fuyuki, Hamada, Nanako, Negishi, Yutaka, Narumi-Kishimoto, Yoko, Ozawa, Hiroshi, Ito, Hidenori, Hori, Ikumi, Hattori, Ayako, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko,Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2018-105487
Date:
December, 2018
File:
PDF, 1.14 MB
english, 2018