Open AccessSIMULTANEOUS FZD4 AND LRP5 MUTATION IN AUTOSOMAL DOMINANT FAMILIAL EXUDATIVE VITREORETINOPATHY
Author(s) -
Evan Stiegel,
Emil Anthony T. Say,
B. Christian Carter,
Matthew Thomas,
Carol L. Shields
Publication year - 2013
Publication title -
retinal cases and brief reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.428
H-Index - 14
eISSN - 1937-1578
pISSN - 1935-1089
DOI - 10.1097/icb.0b013e31827537eb
Subject(s) - medicine , coats' disease , ophthalmology , penetrance , proband , fluorescein angiography , retinal , mutation , genetics , phenotype , biology , gene
The purpose of this study was to report simultaneous mutations of FZD4 and LRP5 genes associated with autosomal dominant familial exudative vitreoretinopathy in members of one family.