Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Satoshi Katagiri Katsuhiro Hosono Takaaki HayashiNoriyuki MuraiEiichi WakeIchiro MiyataKei MizobuchiKentaro KurataTomokazu MatsuuraTadashi NakanoYoshihiro Hotta

Published in: Documenta ophthalmologica. Advances in ophthalmology (2020)

This is the first report of a BBS patient with biallelic splice-site BBS1 variants in the Japanese population. Disparity between funduscopic and ERG findings may be a feature of BBS1-associated rod-cone dystrophy.

Keyphrases

case report
copy number
intellectual disability
machine learning
early onset
autism spectrum disorder
dna methylation