Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

PURPOSE: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in C...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Lhussiez, Vincent, Dubus, Elisabeth, Cesar, Quénol, Acar, Niyazi, Nandrot, Emeline F., Simonutti, Manuel, Audo, Isabelle, Lizé, Eléonore, Nguyen, Sylvie, Geissler, Audrey, Bouchot, André, Ansar, Muhammad, Picaud, Serge, Thauvin-Robinet, Christel, Olivier-Faivre, Laurence, Duplomb, Laurence, Da Costa, Romain
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2020
Assuntos:
Lens
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7488618/
https://ncbi.nlm.nih.gov/pubmed/32915983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.11.18
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