HIGHLIGHTS
- who: Giulio Antonelli et al. from the MAGI EU have published the Article: Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes, in the Journal: Diagnostics 2022, 1851 of 28/07/2022
- what: From the observation of several different IRD in the clinical practice, the authors focused on those patients with a confirmed known pathogenic mutation, and a possible novel one in the PRPH2 gene, detected by a next generation sequencing (NGS) large genetic panel for MD, cone-rod dystrophy (CRD), and RP cases. The study was conducted in a cohort of 28 PRPH2 patients with . . .
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