| 1 | HGPPS, ROBO3
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| Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
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| Volk AE, Carter O, Fricke J, Herkenrath P, Poggenborg J, Borck G, Demant AW, Ivo R, Eysel P, Kubisch C, Neugebauer A.
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| Mol Vis 17:1978-86. Epub 2011 Jul 20.
2011
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| 2 | HGPPS, ROBO3
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| Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.
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| Abu-Amero KK, Faletra F, Gasparini P, Parentin F, Pensiero S, Alorainy IA, Hellani AM, Catalano D, Bosley TM.
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| Ophthalmic Genet 32(4):212-6. Epub 2011 Apr 21.
2011
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| 3 | ROBO3, HGPPS
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| Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
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| Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC.
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| J Med Genet 43(3):e11. 2006
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| 4 | ROBO3, HGPPS
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| 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.
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| Amoiridis G, Tzagournissakis M, Christodoulou P, Karampekios S, Latsoudis H, Panou T, Simos P, Plaitakis A.
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| J Neurol Neurosurg Psychiatry 77(9):1047-53. Epub 2006 Jun 13. 2006
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| 5 | HGPPS
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| The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.
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| Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui LC, Teebi AS.
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| Clin Genet 65(2):137-42. 2004
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| 6 | TBRG1, ROBO3, HGPPS
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| Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.
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| Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rub 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.
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| Science 304(5676):1509-13. Epub 2004 Apr 22. 2004
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| 7 | ROBO3, HGPPS
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| Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.
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| Jen J, Coulin CJ, Bosley TM, Salih MA, Sabatti C, Nelson SF, Baloh RW.
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| Neurology 59(3):432-5. 2002
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