ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
ABHD16A 缺陷会导致一种复杂的遗传性痉挛性截瘫,并伴有智力障碍和脑部异常。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.09.005
Lemire, Gabrielle; Ito, Yoko A; Marshall, Aren E; Chrestian, Nicolas; Stanley, Valentina; Brady, Lauren; Tarnopolsky, Mark; Curry, Cynthia J; Hartley, Taila; Mears, Wendy; Derksen, Alexa; Rioux, Nadie; Laflamme, Nataly; Hutchison, Harrol T; Pais, Lynn S; Zaki, Maha S; Sultan, Tipu; Dane, Adrie D; Gleeson, Joseph G; Vaz, Frédéric M; Kernohan, Kristin D; Bernard, Geneviève; Boycott, Kym M