Severe exudative vitreoretinopathy as a common feature for CTNNB1, KIF11 and NDP variants plus sector degeneration for KIF11.
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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