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

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

Publikováno v: Taylor, R L, Soriano, C S, Williams, S, Dzulova, D, Ashworth, J, Hall, G, Gale, T, Lloyd, I C, Inglehearn, C F, Toomes, C, Douzgou, S & Black, G 2022, ' Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia ', Orphanet Journal of Rare Diseases, vol. 17, 110 . https://doi.org/10.1186/s13023-022-02239-3

Background Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major impact on vision. Several gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d16d6283569395b93e1ca9f8bd5bae6e
https://pubmed.ncbi.nlm.nih.gov/35246174