Joubert Syndrome is a condition that affects brain development and manifests itself through delayed psychomotor development, abnormal coordination of eye movements and respiratory abnormalities. Since Dr. Marie Joubert and her colleagues described it for the first time in 1969, a number of related genes have been identified in various populations, but the causal gene of the Quebec form of the syndrome has remained until now unknown.
- Loss of stability of the AHI1-HAP1 complex an issue in Joubert syndromeThu, 17 Jul 2008, 19:35:36 EDT
- CAMH researcher discovers new gene that causes intellectual disability Thu, 12 May 2011, 14:36:36 EDT
- Scientists link evolved, mutated gene module to syndromic autismThu, 26 Jan 2012, 22:32:52 EST
- Researchers uncover new data about Arl13b function in Joubert syndromeMon, 15 Mar 2010, 11:15:19 EDT
- Faulty gene stops cell 'antennae' from transmittingSun, 30 May 2010, 13:35:30 EDT