A splice variant in expands the clinical and genetic spectrum of Harel-Yoon syndrome.
作者信息
Hanes Ilana, McMillan Hugh J, Ito Yoko, Kernohan Kristin D, Lazier Joanna, Lines Matthew A, Dyment David A
机构信息
Division of Neurology (I.H., H.J.M.), Children's Hospital of Eastern Ontario, Children's Hospital of Eastern Ontario Research Institute (H.J.M., Y.I., D.A.D.), University of Ottawa; Newborn Screen Ontario (K.D.K.), Ottawa; Department of Clinical Genetics (J.L., D.A.D.), and Division of Metabolics (M.A.L.), Children's Hospital of Eastern Ontario, University of Ottawa.
出版信息
Neurol Genet. 2020 Jun 3;6(4):e452. doi: 10.1212/NXG.0000000000000452. eCollection 2020 Aug.
Abstract
摘要
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