Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our...

Descripción completa

Detalles Bibliográficos
Autores principales: Vilares-Morgado, Rodrigo, Ferreira, Ana Margarida, Santos-Silva, Renato, Quental, Rita, Carneiro, Ângela, Estrela-Silva, Sérgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601875/
https://www.ncbi.nlm.nih.gov/pubmed/37901634
http://dx.doi.org/10.1159/000533974

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601875/
https://www.ncbi.nlm.nih.gov/pubmed/37901634
http://dx.doi.org/10.1159/000533974

Ejemplares similares