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A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.

Autor: Yavas Abali Z; Institute of Health Sciences, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Department of Pediatric Endocrinology, Pendik Research and Training Hospital, Marmara University, İstanbul, Turkey., Gokpinar Ili E; Department of Medical Genetics, Başaksehir Çam and Sakura City Hospital, Istanbul, Turkey., Bas F; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Ulak Ozkan M; Department of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Gulec Ç; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Toksoy G; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Ozturk AP; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Karakilic Ozturan E; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Aslanger A; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Caliskan M; Department of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Yesil G; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Poyrazoglu S; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Darendeliler F; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Oya Uyguner Z; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2024; Vol. 97 (2), pp. 157-164. Date of Electronic Publication: 2023 Jul 18.