Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Linda Z RossettiMir Reza BekheirniaAndrea M LewisHeather C MeffordKatie Golden-GrantKristina Tarczy-HornochLauren C BriereDavid A SweetserMelissa A WalkerElijah KravetsDavid A StevensonGeorgette BruennerJessica SebastianJulia KnapoJill A RosenfeldPaul C Marcogliesenull nullMichael F WanglerPublished in: Molecular genetics & genomic medicine (2020)
Our findings suggest ophthalmologic screening should be performed in all patients with CTNNB1 variants.