The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment

Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and interfamilial heterogenicity make still difficult to determine a precise genotype-phenotype correlatio...

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Detalles Bibliográficos
Autores principales: Donato, Luigi, Alibrandi, Simona, Scimone, Concetta, Rinaldi, Carmela, Dascola, Angela, Calamuneri, Alessandro, D’Angelo, Rosalia, Sidoti, Antonina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733859/
https://www.ncbi.nlm.nih.gov/pubmed/36490268
http://dx.doi.org/10.1371/journal.pone.0278857

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733859/
https://www.ncbi.nlm.nih.gov/pubmed/36490268
http://dx.doi.org/10.1371/journal.pone.0278857

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