Article
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
American journal of medical genetics. Part A - 1 Aug 2014
Yamada Yasukazu, Nomura Noriko, Yamada Kenichiro, Matsuo Mari, Suzuki Yuka, Sameshima Kiyoko, Kimura Reiko, Yamamoto Yuto, Fukushi Daisuke, Fukuhara Yayoi, Ishihara Naoko, Nishi Eriko, Imataka George, Suzumura Hiroshi, Hamano Shin-Ichiro, Shimizu Kenji, Iwakoshi Mie, Ohama Kazunori, Ohta Akira, Wakamoto Hiroyuki, Kajita Mitsuharu, Miura Kiyokuni, Yokochi Kenji, Kosaki Kenjiro, Kuroda Tatsuo, Kosaki Rika, Hiraki Yoko, Saito Kayoko, Mizuno Seiji, Kurosawa Kenji, Okamoto Nobuhiko, Wakamatsu Nobuaki
Abstract excerpt
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesis or hypoplasia of the corpus callosum, congenital heart defects, Hirschsprung disease, and urogenital/renal anomalies. It is caused by de novo heterozygous loss of function mutations including nonsense mutations,...
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