A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).".
作者信息
Harrer Philip, Leppmeier Verena, Berger Andrea, Demund Simone, Winkelmann Juliane, Berweck Steffen, Zech Michael
机构信息
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
Hospital for Neuropediatrics and Neurological Rehabilitation, Centre of Epilepsy for Children and Adolescents, Schoen Klinik Vogtareuth, Vogtareuth, Germany.
出版信息
Eur J Med Genet. 2022 Nov;65(11):104635. doi: 10.1016/j.ejmg.2022.104635. Epub 2022 Oct 3.
PMID:36202297
Abstract
摘要
Zotero 插件