Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish Patients.
作者信息
Ozturk Gulten, Ayaz Akif, Topcu Yasemin, Akyuz Gülcan, Unver Olcay, Akbeyaz Ismail Hakk, Ekinci Gazanfer, Turkdogan Dilsad
机构信息
Marmara University Medical Faculty Pendik Education and Research Hospital, Department of Pediatric Neurology, Istanbul, Turkey.
Medipol University Department of Medical Genetics, Istanbul, Turkey.
出版信息
Ann Indian Acad Neurol. 2022 Mar-Apr;25(2):292-294. doi: 10.4103/aian.aian_314_21. Epub 2021 Nov 10.
Abstract
摘要
Zotero 插件