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ROBO3
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ROBO3
gene.
Abu-Amero KK, al Dhalaan H, al Zayed Z, Hellani A, Bosley TM. Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. J Neurol Sci. 2009 Jan 15;276(1-2):22-6. doi: 10.1016/j.jns.2008.08.026. Epub 2008 Oct 1.
PubMed citation
Amoiridis G, Tzagournissakis M, Christodoulou P, Karampekios S, Latsoudis H, Panou T, Simos P, Plaitakis A. Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testing. J Neurol Neurosurg Psychiatry. 2006 Sep;77(9):1047-53. Epub 2006 Jun 13.
PubMed citation
Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet. 2006 Mar;43(3):e11.
PubMed citation
Entrez
Gene
Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun 4;304(5676):1509-13. Epub 2004 Apr 22.
PubMed citation
Jen JC. Effects of failure of development of crossing brainstem pathways on ocular motor control. Prog Brain Res. 2008;171:137-41. doi: 10.1016/S0079-6123(08)00618-3.
PubMed citation
Reviewed: March 2009
Published: May 20, 2013