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Neurologic phenotypes associated with COL4A1/2 mutations Expanding the spectrum of disease

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第一作者: Zagaglia, Sara
作者单位: Childrens Hosp Augsburg, Dept Pediat, Sch Klin Vogtareuth, Augsburg, Germany [1] Royal North Shore Hosp, Dept Clin Genet, St Leonards, NSW, Australia [2] Ludwig Maximilians Univ Munchen, Munich, Germany [3] Univ Genoa, G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, Dept Neurosci Rehabil Ophthalmol [4] Altona Childrens Hosp, Hamburg, Germany [5] Tartu Univ Hosp, Dept Radiol, Tartu, Estonia [6] Univ Med Ctr Gottingen, Dept Pediat & Adolescent Med, Leipzig, Germany [7] UCL Great Ormond St Inst Child Hlth, London, England [8] Univ Hosp Wales, Dept Neurol, Cardiff, S Glam, Wales [9] Childrens Hosp Augsburg, Neurosurg Clin, Augsburg, Germany [10] Tohoku Univ, Ctr Genom Med, Sendai, Miyagi, Japan [11] Hans Christian Andersen Childrens Hosp, Odense, Denmark [12] Univ Tartu, Dept Pediat, Tartu, Estonia [13] Univ Florence, A Meyer Childrens Hosp, Paediat Neurol & Neurogenet Unit & Labs, Florence, Italy [14] Univ Clin Leipzig, Hosp Children & Adolescents, Leipzig, Germany [15] Univ Tartu, Inst Clin Med, Tartu, Estonia [16] UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England [17] CeGaT Ctr Genom & Transcript, Tubingen, Germany [18] Danish Epilepsy Ctr, Dianalund, Denmark [19] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark [20] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA [21] UCL Inst Neurol, Stroke Res Ctr, Dept Brain Repair & Rehabil, London, England [22] Freiburg Med Lab, Dubai, U Arab Emirates [23] Tech Univ Munich, Dept Pediat, Munich, Germany [24] John Hunter Childrens Hosp, New Lambton Hts, NSW, Australia [25] Kennedy Krieger Inst, Dept Neurol, Div Neurogenet, Baltimore, MD USA [26] Natl Hosp Neurol & Neurosurg, Div Neuroradiol, London, England [27] Childrens Hosp Augsburg, Dept Pediat Neurol & Neurol Rehabil, Augsburg, Germany [28] UCL Inst Neurol, Div Neuropathol, London, England [29] Dr Horst Schmidt Klin, Childrens Hosp, Wiesbaden, Germany [30] Dr Horst Schmidt Klin, Dept Pediat Neurol, Clin Traunstein, Wiesbaden, Germany [31] Hosp Sao Joao, Dept Med Genet, Neurogenet Unit, Porto, Portugal [32]
发布时间 2019-07-27
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Neurology: Official Journal of the American Academy of Neurology

Neurology

2018年91卷22期

E2078-E2088页

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