Article
Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis.
Journal of molecular neuroscience : MN - 1 Nov 2009
Amouri Rim, Nehdi Houda, Bouhlal Yosr, Kefi Mounir, Larnaout Abdelmajid, Hentati Fayçal
Abstract excerpt
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by the congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. HGPPS is caused by mutations of the ROBO3 gene, which encodes a protein that shares homology with the roundabout family of transmembrane...
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