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pro vyhledávání: '"Alessandro Cappelli"'
Autor:
Giancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe’, Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, Andrea Bartuli, Luca Buzzonetti
Publikováno v:
Diagnostics, Vol 12, Iss 9, p 2183 (2022)
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,
Externí odkaz:
https://doaj.org/article/100e43fa61934ef6a5888b2489c699ae