USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy caused by pathogenic variants in over 80 different genes. Further complexifying diagnosis, different variants in indivi...

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Detalles Bibliográficos
Autores principales: Sanjurjo-Soriano, Carla, Jimenez-Medina, Carla, Erkilic, Nejla, Cappellino, Luisina, Lefevre, Arnaud, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Van Wijk, Erwin, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465966/
https://www.ncbi.nlm.nih.gov/pubmed/37654703
http://dx.doi.org/10.1016/j.xhgg.2023.100229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465966/
https://www.ncbi.nlm.nih.gov/pubmed/37654703
http://dx.doi.org/10.1016/j.xhgg.2023.100229

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