J Med Genet. 2022 Mar 31;jmedgenet-2021-108259. doi: 10.1136/jmedgenet-2021-108259. Online ahead of print.(IF:6.318).
2022-03-31J Med Genet. 2022 Mar 31;jmedgenet-2021-108259. doi: 10.1136/jmedgenet-2021-108259. Online ahead of print. Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy (IF:6.318).