A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate
Kato, Koji, Miya, Fuyuki, Hori, Ikumi, Ieda, Daisuke, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki,Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2017.53
Date:
May, 2017
File:
PDF, 298 KB
english, 2017