A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis

Sevcan Tuğ BozdoğanDepartment of Medical Genetics, Mersin University, Mersin, Turkey

Erdem DinçDepartment of Ophthalmology, Mersin University, Mersin, TurkeyCorrespondence[email protected]

A. Ayça SarıDepartment of Ophthalmology, Mersin University, Mersin, Turkey

Anıl ÖzgürDepartment of Radiology, Faculty of Medicine, Mersin University, Mersin, Turkey

Atıl BişginDepartment of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey

References

Graeber CP, Hunter DG, Engle EC. The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease. Semin Ophthalmol 2013;28:427–437.
PubMed Web of Science ®Google Scholar
Chan WM, Traboulsi EI, Arthur B, et al. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet 2006;43:e11.
PubMed Web of Science ®Google Scholar
Jen JC, Chan WM, Bosley TM, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004;304:1509–1513.
PubMed Web of Science ®Google Scholar
Sharpe JA, Silversides JL, Blair RD. Familial paralysis of horizontal gaze. Associated with pendular nystagmus, progressive scoliosis, and facial contraction with myokymia. Neurology 1975;25:1035–1040.
Google Scholar
Volk AE, Carter O, Fricke J, et al. Horizontal gaze palsy with progressive scoliosis: Three novel ROBO3 mutations and descriptions of the phenotypes of four patients Mol Vis 2011;17:1978–1986.
Google Scholar
Bomfim RC, Távora DGF, Nakayama M, et al. Horizontal gaze palsy with progressive scoliosis: CT and MR findings. Pediatr Radiol 2009;39:184–187.
PubMed Web of Science ®Google Scholar
Abu-Amero KK, Faletra F, Gasparini P, et al. Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations. Ophthalmic Genet 2011;32:212–216.
PubMed Web of Science ®Google Scholar

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A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis

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