A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome

• Главные авторы: Nazlı Durmaz Çelik (Автор), Ebru Erzurumluoğlu (Автор), Serkan Özben (Автор), Uğur Toprak (Автор), Göknur Yorulmaz (Автор), Sevilhan Artan (Автор), Serhat Özkan (Автор)
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• Опубликовано: BMC, 2023-05-01T00:00:00Z.
• Предметы: article
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Abstract Background Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutati...