Variables in the ACBD5 Gene Leading to Distinct Phenotypes: A Case Report

We report the cases of a father and his daughter, the former diagnosed with retinitis pigmentosa (RP) and the latter with early foveal atrophy; while both shared a novel variant of uncertain significance (VUS) in the ACBD5 gene (variant c.431G>A), they exhibited different clinical profiles and di...

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Detalles Bibliográficos
Autores principales: Pappaterra-Rodriguez, Mariella C, Muns, Sofia M, Ayala Rodríguez, Sofía C, Requejo Figueroa, Guillermo A, Izquierdo, Natalio, Oliver, Armando L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872965/
https://www.ncbi.nlm.nih.gov/pubmed/36699790
http://dx.doi.org/10.7759/cureus.32930

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872965/
https://www.ncbi.nlm.nih.gov/pubmed/36699790
http://dx.doi.org/10.7759/cureus.32930

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