RPGRIP1 variant associated with pigmented paravenous chorioretinal atrophy.

Lorenzo Bianco Antropoli AlessioAlessandro ArrigoAndrea SaladinoAlessandro Berni Francesco Maria Bandello Ahmad M MansourMaurizio Battaglia Parodi

Published in: European journal of ophthalmology (2023)

, a gene that has been associated with Leber congenital amaurosis and cone-rod dystrophy. Our case expands the spectrum of genes associated with PPCRA and prompts further studies to ascertain the molecular etiopathogenesis of this disease.

Keyphrases

copy number
early onset
genome wide
case control
genome wide identification
dna methylation
transcription factor