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A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
Durmaz Çelik, Nazli; Erzurumluoglu, Ebru; Özben, Serkan; Toprak, Ugur; Yorulmaz, Göknur; Artan, Sevilhan; Özkan, Serhat.
  • Durmaz Çelik N; Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey. doktornazli@hotmail.com.
  • Erzurumluoglu E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Özben S; Department of Neurology, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey.
  • Toprak U; Department of Radiology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
  • Yorulmaz G; Department of Endocrinology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
  • Artan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Özkan S; Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
BMC Med Genomics ; 16(1): 98, 2023 05 09.
Article en En | MEDLINE | ID: mdl-37161390
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Síndrome de Klinefelter Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Síndrome de Klinefelter Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article