mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.
作者信息
Kazamel Mohamed, Lopez Michael A, Bebin Martina, Bowling Kevin, Korf Bruce R, Barsh Gregory S, Cooper Gregory M, Hurst Anna C E, Ubogu Eroboghene E
机构信息
Department of Neurology (M.K., M.B., E.E.U.), University of Alabama at Birmingham (UAB); Department of Pediatrics (M.A.L., M.B.), Children's of Alabama | UAB; HudsonAlpha Institute for Biotechnology (K.B., G.S.B., G.M.C.), Huntsville, AL; and Department of Genetics (B.R.K., A.C.E.H.), UAB.
出版信息
Neurol Genet. 2020 Jun 25;6(4):e476. doi: 10.1212/NXG.0000000000000476. eCollection 2020 Aug.
Abstract
摘要
Zotero 插件