16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.
作者信息
Lasa-Aranzasti Amaia, Cazurro-Gutiérrez Ana, Bescós Agustín, González Victoria, Ispierto Lourdes, Tardáguila Manel, Valenzuela Irene, Plaja Alberto, Moreno-Galdó Antonio, Macaya-Ruiz Alfons, Pérez-Dueñas Belen
机构信息
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain; Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.
Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain.
出版信息
Parkinsonism Relat Disord. 2022 Oct;103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7.
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