Article
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Clinical neurology and neurosurgery - 1 Jan 2023
Aksu Uzunhan Tuğçe, Ertürk Biray, Aydın Kürşad, Ayaz Akif, Altunoğlu Umut, Yarar Murat Hakkı, Gezdirici Alper, İçağasıoğlu Dilara Füsun, Gökpınar İli Ezgi, Uyanık Bülent, Eser Metin, Kutbay Yaşar Bekir, Topçu Yasemin, Kılıç Betül, Bektaş Gonca, Arduç Akçay Ayfer, Ekici Barış, Chousein Amet, Avcı Şahin, Yüksel Atıl, Kayserili Hülya
Abstract excerpt
OBJECTIVE: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinicall...
Topics
- Retrospective Studies
- Ciliopathies
- Retina
- Cytoskeletal Proteins
- Mutation
- Humans
- Eye Abnormalities
- Antigens, Neoplasm
- Cell Cycle Proteins
- Proteins
- Abnormalities, Multiple
- Kidney Diseases, Cystic
- Cerebellum