Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience

• Main Authors: Serap Bilge (Author), Gülen Gül Mert (Author), Özlem Hergüner (Author), Duygu Özcanyüz (Author), Sevcan Tuğ Bozdoğan (Author), Ömer Kaya (Author), Cengiz Havalı (Author)
• 格式: 圖書
• 出版: BMC, 2022-09-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in the prenatal period. Our study aimed to present different clinical and radiological manifestations of our genetically diagnosed PCH patients. M...