MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report

The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes two not knowingly related adult cases of MFRP-associated retinopathy and nanopht...

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Detalles Bibliográficos
Autores principales: O’Connell, Ann, Zhu, Julia, Stephenson, Kirk A.J., Whelan, Laura, Dockery, Adrian, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Author(s). Published by S. Karger AG 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808125/
https://www.ncbi.nlm.nih.gov/pubmed/36605040
http://dx.doi.org/10.1159/000527260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808125/
https://www.ncbi.nlm.nih.gov/pubmed/36605040
http://dx.doi.org/10.1159/000527260

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