Article
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
PloS one - 1 Jan 2022
Donato Luigi, Alibrandi Simona, Scimone Concetta, Rinaldi Carmela, Dascola Angela, Calamuneri Alessandro, D'Angelo Rosalia, Sidoti Antonina
Abstract excerpt
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 correlation. Here, we used a next-generation sequencing approach to study a Sicilian family with a suspected form of CORD....
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