Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.

Kentaro Kurata Katsuhiro Hosono Yoshihiro Hotta

Published in: Documenta ophthalmologica. Advances in ophthalmology (2018)

This is the first description of a Japanese patient with arRP caused by RP1 mutations. Additional data are necessary to more accurately determine the clinical course and mutation spectrum in patients with RP1-related arRP.

Keyphrases

case report
genome wide
intellectual disability
gene expression
dna methylation
copy number
autism spectrum disorder
machine learning
data analysis