Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
Shiomi OtsujiYosuke NishioMaki TsujitaMarlene RioCéline HuberCarlos Antón-PlágaroSeiji MizunoYoshihiko KawanoSatoko MiyatakeMarleen SimonEllen van BinsbergenRichard H van JaarsveldNaomichi MatsumotoValerie Cormier-DairePeter J CullenShinji SaitohKohji KatoPublished in: Journal of medical genetics (2022)
VPS35L-associated RSS is a distinct clinical entity with diverse phenotype and severity, with a possible molecular mechanism of hypercholesterolaemia. These findings provide new insight into the essential and distinctive role of Retriever in human development.
Keyphrases