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X-linked dominant RPGR gene mutation in a familial Coats angiomatosis
BACKGROUND: Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large application of Next Generation Sequencing (NGS) approaches improv...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7807486/ https://www.ncbi.nlm.nih.gov/pubmed/33446141 http://dx.doi.org/10.1186/s12886-020-01791-5 |