Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
作者信息
AlMuhaizea Mohammed, AlMass Rawan, AlHargan Aljouhra, AlBader Anoud, Medico Salsench Eva, Howaidi Jude, Ihinger Jacie, Karachunski Peter, Begtrup Amber, Segura Castell Monica, Bauer Peter, Bertoli-Avella Aida, Kaya Ibrahim H, AlSufayan Jumanah, AlQuait Laila, Chedrawi Aziza, Arold Stefan T, Colak Dilek, Barakat Tahsin Stefan, Kaya Namik
机构信息
Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
出版信息
Acta Neuropathol. 2020 Apr;139(4):791-794. doi: 10.1007/s00401-020-02128-8. Epub 2020 Jan 31.
PMID:32006098
Abstract
摘要
Zotero 插件