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...

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Detalles Bibliográficos
Autores principales: Nebbioso, Marcella, Franzone, Federica, Lambiase, Alessandro, La Cava, Maurizio, Mallone, Fabiana, Pizzuti, Antonio, Marchionni, Enrica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
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

Internet

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

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