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

Ophthalmic Genet. 2017 May-Jun;38(3):284-285. doi: 10.1080/13816810.2016.1188123. Epub 2016 Jun 7.

Authors

Sevcan Tuğ Bozdoğan¹, Erdem Dinç², A Ayça Sarı², Anıl Özgür³, Atıl Bişgin⁴

Affiliations

¹ a Department of Medical Genetics , Mersin University , Mersin , Turkey.
² b Department of Ophthalmology , Mersin University , Mersin , Turkey.
³ c Department of Radiology, Faculty of Medicine , Mersin University , Mersin , Turkey.
⁴ d Department of Medical Genetics, Faculty of Medicine , Cukurova University , Adana , Turkey.

PMID: 27267957
DOI: 10.1080/13816810.2016.1188123

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Brain / diagnostic imaging
Codon, Terminator / genetics*
Consanguinity
Female
Humans
Magnetic Resonance Imaging
Mutation*
Ophthalmoplegia, Chronic Progressive External / diagnostic imaging
Ophthalmoplegia, Chronic Progressive External / genetics*
Ophthalmoplegia, Chronic Progressive External / surgery
Receptors, Cell Surface
Receptors, Immunologic / genetics*
Rib Cage / diagnostic imaging
Scoliosis / diagnostic imaging
Scoliosis / genetics*
Scoliosis / surgery
Young Adult

Substances

Codon, Terminator
ROBO3 protein, human
Receptors, Cell Surface
Receptors, Immunologic

Supplementary concepts

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis