Delineating the expanding phenotype associated with SCAPER gene mutation.
作者信息
Fasham James, Arno Gavin, Lin Siying, Xu Mingchu, Carss Keren J, Hull Sarah, Lane Amelia, Robson Anthony G, Wenger Olivia, Self Jay E, Harlalka Gaurav V, Salter Claire G, Schema Lynn, Moss Timothy J, Cheetham Michael E, Moore Anthony T, Raymond F Lucy, Chen Rui, Baple Emma L, Webster Andrew R, Crosby Andrew H
机构信息
Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital (Heavitree), Exeter, United Kingdom.
出版信息
Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13.
Abstract
摘要
Zotero 插件