The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Donato L, Alibrandi S, Scimone C, Rinaldi C, Dascola A, Calamuneri A, D'Angelo R, Sidoti A.
Donato L, et al.
PLoS One. 2022 Dec 9;17(12):e0278857. doi: 10.1371/journal.pone.0278857. eCollection 2022.
PLoS One. 2022.
PMID: 36490268
Free PMC article.
According to relationship with GUCY2D, predicted functional effects, eye localization, and ocular disease affinity, only 9 variants, carried by 6 genes (CACNG8, PAX2, RXRG, CCDC175, PDE4DIP and LTF), survived the filtering. These genes encode key proteins involved in cone …
According to relationship with GUCY2D, predicted functional effects, eye localization, and ocular disease affinity, only 9 variants, carried …