Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD TBCD TBCD : further delineation of a new chaperone‐mediated tubulinopathy

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作者： Pode‐Shakked B. ^[1] ; Barash H. ^[2] ; Ziv L. ^[3] ; Gripp K.W. ^[4] ; Flex E. ^[5] ; Barel O. ^[6] ; Carvalho K.S. ^[7] ; Scavina M. ^[8] ; Chillemi G. ^[9] ; Niceta M. ; Eyal E. ; Kol N. ; Ben‐Zeev B. ; Bar‐Yosef O. ; Marek‐Yagel D. ; Bertini E. ; Duker A.L. ; Anikster Y. ; Tartaglia M. ; Raas‐Rothschild A.

作者单位： Genetics and Rare Diseases Research DivisionOspedale Pediatrico Bambino GesùRome,Italy ^[1] SCAI‐Super Computing Applications and Innovation DepartmentCINECARome,Italy ^[2] Division of Medical GeneticsA.I. duPont Hospital for ChildrenWilmington,DE,USA ^[3] Sackler Faculty of MedicineTel‐Aviv UniversityTel‐Aviv,Israel ^[4] The Institute for Rare Diseases, The Danek Gertner Institute of Human GeneticsSheba Medical ^[5] Section of Pediatric Neurology, St. Christopher's Hospital for ChildrenDrexel University College of ^[6] Division of Pediatric NeurologyA.I. duPont Hospital for ChildrenWilmington,DE,USA ^[7] Sheba Cancer Research CenterSheba Medical CenterTel‐Hashomer,Israel ^[8] Department of Hematology, Oncology and Molecular MedicineIstituto Superiore di SanitàRome,Italy ^[9]

关键词 developmental delay intractable epilepsy microcephaly TBCD tubulin

发布时间 2019-01-13

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