Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
ABHD16A 致病变异导致一种新型精神运动发育障碍,并伴有痉挛性截瘫
期刊:Frontiers in Neurology
影响因子:2.7
doi:10.3389/fneur.2021.720201
Ashraf Yahia, Liena E O Elsayed, Remi Valter, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Mustafa A Salih, Typhaine Esteves, Nicolas Auger, Rayan Abubaker, Mahmoud Koko, Fatima Abozar, Hiba Malik, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Razaz Idris, Isra Z M Eltazi, Arwa Babai, Elham