Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy

Little is known about the genetic background of pigmented paravenous retinochoroidal atrophy (PPRCA) due to rarity of patients. In this study, we identified two pathogenic variants in RPGRIP1 in a 2-year-old boy with PPRCA screened by whole-exome sequencing (WES). The patient presented to our depart...

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Detalles Bibliográficos
Autores principales: Liu, Zeyuan, Wang, He, He, Xiaoli, Tao, Dan, Li, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843229/
https://www.ncbi.nlm.nih.gov/pubmed/36713053
http://dx.doi.org/10.1515/biol-2022-0532

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843229/
https://www.ncbi.nlm.nih.gov/pubmed/36713053
http://dx.doi.org/10.1515/biol-2022-0532

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