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

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 canonica...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896279/
https://www.ncbi.nlm.nih.gov/pubmed/35246174
http://dx.doi.org/10.1186/s13023-022-02239-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896279/
https://www.ncbi.nlm.nih.gov/pubmed/35246174
http://dx.doi.org/10.1186/s13023-022-02239-3

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