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在皮层发育的焦点形中,mTOR路径体性致病变体:新型变体,地形绘图和临床结果

Eric Krochmalnek1, Andrea Accogli1, Judith St-Onge1

  • 1From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada.

Neurology. Genetics
|October 30, 2023
PubMed
概括

哺乳动物目标拉巴胺素 (mTOR) 途径的体质变异驱动皮层发育的焦点形 (FMCDs). 变异性等位基因的频率与mTORpathie的疾病严重程度和外科手术结果相关.

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