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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

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