Article
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.
Orphanet journal of rare diseases - 4 Mar 2022
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
Abstract excerpt
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 genes encoding proteins and effectors of the canonical Wnt/β-catenin pathway have been associated and precise diagnosis, although difficult, is essential for proper...
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