Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation.

Mostafa Neissi Motahareh Sheikh-Hosseini Javad Mohammadi Asl

Published in: Clinical case reports (2024)

gene. This highlights the crucial role of accurate variant identification in not only informing prognosis but also improving genetic consultations and influencing future diagnostic approaches for individuals affected by retinitis pigmentosa.

Keyphrases

genome wide
copy number
high resolution
dna methylation
gene expression