A de novo ATXN2L variant in a child with developmental delay and macrocephaly.
作者信息
Alzahrani Fatema, Albatti Turki H, Alkuraya Fowzan S
机构信息
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdullatif Al Fozan Center for Autism, Alkhobar, Saudi Arabia.
出版信息
Am J Med Genet A. 2021 Mar;185(3):949-951. doi: 10.1002/ajmg.a.62007. Epub 2020 Dec 7.
PMID:33283965
Abstract
摘要
Zotero 插件