title: Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles.
authors.affiliation: a Department of Medical Genetics, Faculty of Medicine , Hacettepe University , Ankara , Turkey.
authors.forename: Ahmet Cevdet
authors.initials: AC
authors.lastname: Ceylan
authors.affiliation: b Department of Ophthalmology , Eskişehir Osmangazi University Medical Faculty , Eskişehir , Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Gursoy
authors.affiliation: b Department of Ophthalmology , Eskişehir Osmangazi University Medical Faculty , Eskişehir , Turkey.
authors.forename: Nilgun
authors.initials: N
authors.lastname: Yildirim
authors.affiliation: b Department of Ophthalmology , Eskişehir Osmangazi University Medical Faculty , Eskişehir , Turkey.
authors.forename: Hikmet
authors.initials: H
authors.lastname: Basmak
authors.affiliation: b Department of Ophthalmology , Eskişehir Osmangazi University Medical Faculty , Eskişehir , Turkey.
authors.forename: Nazmiye
authors.initials: N
authors.lastname: Erol
authors.affiliation: c Department of Medical Genetics , Eskişehir Osmangazi University Medical Faculty , Eskişehir , Turkey.
authors.forename: Oguz
authors.initials: O
authors.lastname: Cilingir
mesh_terms: D000293:Adolescent; D000369:Aged, 80 and over; D002675:Child, Preschool; D005133:Eye Movements / Q000502:physiology; D005143:Eyelids / Q000502:physiology; D005260:Female; D005355:Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012030:Refractive Errors / Q000503:physiopathology; D014404:Tubulin / Q000235:genetics*; D014421:Turkey; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult; D000093922:Congenital Cranial Dysinnervation Disorders
chemical_list: C498585:TUBB3 protein, human; D014404:Tubulin