A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis.
a Department of Medical Genetics , Mersin University , Mersin , Turkey.
Sevcan Tuğ
ST
Bozdoğan
b Department of Ophthalmology , Mersin University , Mersin , Turkey.
Erdem
E
Dinç
b Department of Ophthalmology , Mersin University , Mersin , Turkey.
A Ayça
AA
Sarı
c Department of Radiology, Faculty of Medicine , Mersin University , Mersin , Turkey.
Anıl
A
Özgür
d Department of Medical Genetics, Faculty of Medicine , Cukurova University , Adana , Turkey.
Atıl
A
Bişgin
D001921:Brain / Q000000981:diagnostic imaging; D018388:Codon, Terminator / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics*; D000070602:Rib Cage / Q000000981:diagnostic imaging; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D055815:Young Adult; D000097905:Roundabout Proteins; D000093922:Congenital Cranial Dysinnervation Disorders
D018388:Codon, Terminator; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins