Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles

Ophthalmic Genet. 2017 May-Jun;38(3):288-290. doi: 10.1080/13816810.2016.1193881. Epub 2016 Jul 18.

Authors

Ahmet Cevdet Ceylan¹, Huseyin Gursoy², Nilgun Yildirim², Hikmet Basmak², Nazmiye Erol², Oguz Cilingir³

Affiliations

¹ a Department of Medical Genetics, Faculty of Medicine , Hacettepe University , Ankara , Turkey.
² b Department of Ophthalmology , Eskişehir Osmangazi University Medical Faculty , Eskişehir , Turkey.
³ c Department of Medical Genetics , Eskişehir Osmangazi University Medical Faculty , Eskişehir , Turkey.

PMID: 27428177
DOI: 10.1080/13816810.2016.1193881

No abstract available

Publication types

Letter
Review

MeSH terms

Adolescent
Aged, 80 and over
Child, Preschool
Eye Movements / physiology
Eyelids / physiology
Female
Fibrosis / diagnosis
Fibrosis / genetics*
Fibrosis / physiopathology
Genetic Heterogeneity
Genetic Linkage
Genome-Wide Association Study
Humans
Male
Middle Aged
Mutation*
Ophthalmoplegia / diagnosis
Ophthalmoplegia / genetics*
Ophthalmoplegia / physiopathology
Pedigree
Refractive Errors / physiopathology
Tubulin / genetics*
Turkey
Visual Acuity / physiology
Young Adult

Substances

TUBB3 protein, human
Tubulin

Supplementary concepts

Congenital Fibrosis of the Extraocular Muscles