CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype

Ophthalmic Genet. 2016 Dec;37(4):468-470. doi: 10.3109/13816810.2015.1120318. Epub 2016 Mar 11.

Authors

Maxwell W Dixon¹, Maxwell S Stem², Jane L Schuette^{3

4}, Catherine E Keegan^{3

4}, Cagri G Besirli²

Affiliations

¹ a University of Michigan Medical School , Ann Arbor , Michigan , USA.
² b W.K. Kellogg Eye Center, Department of Ophthalmology and Visual Sciences , University of Michigan , Ann Arbor , Michigan , USA.
³ c Department of Pediatrics, Division of Genetics , University of Michigan , Ann Arbor , Michigan , USA.
⁴ d Department of Human Genetics , University of Michigan , Ann Arbor , Michigan , USA.

PMID: 26967979
DOI: 10.3109/13816810.2015.1120318

No abstract available

Publication types

Case Reports
Letter

MeSH terms

DNA Mutational Analysis
Eye Diseases, Hereditary
Familial Exudative Vitreoretinopathies
Fluorescein Angiography
Frameshift Mutation*
Gestational Age
Humans
Infant
Laser Coagulation
Male
Phenotype
Retinal Diseases / diagnosis
Retinal Diseases / genetics*
Retinal Diseases / surgery
beta Catenin / genetics*

Substances

CTNNB1 protein, human
beta Catenin