Pseudodominant Inheritance of Retinitis Pigmentosa Due to Mutations in the Phosphodiesterase 6B Gene: A Case Report

Mutations in the phosphodiesterase 6B (PDE6B) gene are a rare cause of autosomal recessive retinitis pigmentosa (arRP). We report on a non-consanguineous family with a pseudodominant inheritance of RP due to PDE6B mutations. We conducted a chart review of four members of a Puerto Rican family who un...

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Detalles Bibliográficos
Autores principales: Robles Bocanegra, Andrea, Tato, Javier, Molina Thurin, Leonardo J, Izquierdo, Natalio, Oliver, Armando L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10016385/
https://www.ncbi.nlm.nih.gov/pubmed/36938204
http://dx.doi.org/10.7759/cureus.34933

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10016385/
https://www.ncbi.nlm.nih.gov/pubmed/36938204
http://dx.doi.org/10.7759/cureus.34933

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