Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome
PURA基因突变会导致5q31.3微缺失综合征患者出现严重的婴儿肌张力低下、癫痫发作和脑病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.09.014
Lalani, Seema R; Zhang, Jing; Schaaf, Christian P; Brown, Chester W; Magoulas, Pilar; Tsai, Anne Chun-Hui; El-Gharbawy, Areeg; Wierenga, Klaas J; Bartholomew, Dennis; Fong, Chin-To; Barbaro-Dieber, Tina; Kukolich, Mary K; Burrage, Lindsay C; Austin, Elise; Keller, Kory; Pastore, Matthew; Fernandez, Fabio; Lotze, Timothy; Wilfong, Angus; Purcarin, Gabriela; Zhu, Wenmiao; Craigen, William J; McGuire, Marianne; Jain, Mahim; Cooney, Erin; Azamian, Mahshid; Bainbridge, Matthew N; Muzny, Donna M; Boerwinkle, Eric; Person, Richard E; Niu, Zhiyv; Eng, Christine M; Lupski, James R; Gibbs, Richard A; Beaudet, Arthur L; Yang, Yaping; Wang, Meng C; Xia, Fan