Severe exudative vitreoretinopathy as a common feature for CTNNB1, KIF11 and NDP variants plus sector degeneration for KIF11.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.09.017
Abstract: PURPOSE To characterize ocular phenotypes in patients with CTNNB1, KIF11, or NDP variants. DESIGN Retrospective case series. METHODS Seventy-four patients from 59 unrelated families with CTNNB1, KIF11, and NDP variants were enrolled based on exome… read more here.
Keywords: ndp variants; exudative vitreoretinopathy; common feature; ctnnb1 kif11 ... See more keywords
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Ophthalmology"
DOI: 10.1177/11206721221074209
Abstract: Purpose To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR). Methods Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive… read more here.
Keywords: exudative vitreoretinopathy; family; familial exudative; whole exome ... See more keywords