A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the NR2E3 gene. Only a few pathogenic variations in the NRL gene associated with ESCS have been reported to date. Here, we describe the clinical and genetic findings of...

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Detalles Bibliográficos
Autores principales: Iarossi, Giancarlo, Sinibaldi, Lorenzo, Passarelli, Chiara, Coppe’, Andrea Maria, Cappelli, Alessandro, Petrocelli, Gianni, Catena, Gino, Perrone, Chiara, Falsini, Benedetto, Novelli, Antonio, Bartuli, Andrea, Buzzonetti, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9497687/
https://www.ncbi.nlm.nih.gov/pubmed/36140584
http://dx.doi.org/10.3390/diagnostics12092183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9497687/
https://www.ncbi.nlm.nih.gov/pubmed/36140584
http://dx.doi.org/10.3390/diagnostics12092183

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