Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

por Taylor, Rachel L., Soriano, Carla Sanjuro, Williams, Simon, Dzulova, Denisa, Ashworth, Jane, Hall, Georgina, Gale, Theodora, Lloyd, I. Christopher, Inglehearn, Chris F., Toomes, Carmel, Douzgou, Sofia, Black, Graeme C.
Publicado 2022