Clinical features and genotypes of six patients from four families with horizontal gaze palsy with progressive scoliosis

• Κύριοι συγγραφείς: Lijuan Huang (Συγγραφέας), Jianlin Guo (Συγγραφέας), Yan Xie (Συγγραφέας), Yunyu Zhou (Συγγραφέας), Xiaofei Wu (Συγγραφέας), Hui Li (Συγγραφέας), Yun Peng (Συγγραφέας), Ningdong Li (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

BackgroundHorizontal gaze palsy with progressive scoliosis (HGPPS) is a rare disorder mainly involved in ocular movement and spinal development. It is caused by a roundabout guidance receptor 3 (ROBO3) gene mutation. This study aimed to describe the clinical features of six patients with HGPPS and i...