J Med Genet. 2023 Feb;60(2):174-182.doi: 10.1136/jmedgenet-2021-108259. Epub 2022 Mar 31.
2023-02-23J Med Genet. 2023 Feb;60(2):174-182.doi: 10.1136/jmedgenet-2021-108259. Epub 2022 Mar 31. Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy