Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations
由新型RARS2突变引起的伴有心肌病、胎儿水肿和严重多系统呼吸链缺陷的6型脑桥小脑发育不全的神经病理学特征
期刊:Journal of Neuropathology and Experimental Neurology
影响因子:3
doi:10.1097/NEN.0000000000000209
Lax, Nichola Z; Alston, Charlotte L; Schon, Katherine; Park, Soo-Mi; Krishnakumar, Deepa; He, Langping; Falkous, Gavin; Ogilvy-Stuart, Amanda; Lees, Christoph; King, Rosalind H; Hargreaves, Iain P; Brown, Garry K; McFarland, Robert; Dean, Andrew F; Taylor, Robert W