2023年7月11日
;101 (2)
临床/科学报告
致病性RHEB体细胞变异与结节性硬化症复杂的孩子没有致病性变异TSC1或TSC2
李魏舍恩,艾玛Macdonald-Laurs,莎拉·斯蒂芬森,科琳达奇,Wirginia Maixner,答:西蒙哈维,视图ORCID概要保罗·j·洛克哈特,理查德•j•莱维
第一次出版2023年4月4日,
DOI: https://doi.org/10.1212/WNL.0000000000207177
李魏舍恩
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
艾玛Macdonald-Laurs
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
莎拉·斯蒂芬森
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
科琳达奇
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
Wirginia Maixner
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
答:西蒙哈维
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
保罗·j·洛克哈特
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
理查德•j•莱维
布鲁斯·勒弗罗伊中心,默多克儿童研究所(W.S.L.,轮,P.J.L.); Department of Paediatrics (W.S.L., E.M-L., S.S., W.M., A.S.H., P.J.L., R.J.L.), The University of Melbourne; Department of Neurology (E.M-L., A.S.H., R.J.L.), The Royal Children's Hospital; Department of Anatomical Pathology (C.D.A.), The Royal Children's Hospital; Department of Neurosurgery (W.M.), The Royal Children's Hospital, Parkville, Australia.
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