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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
De Gruyter
2023
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| Materias: | |
| 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 |