Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Conclusion
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.

Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Otsuji, S., Nishio, Y., Tsujita, M., Rio, M., Huber, C., Anton-Plagaro, C., Mizuno, S., Kawano, Y., Miyatake, S., Simon, M., van Binsbergen, E., van Jaarsveld, R. H., Matsumoto, N., Cormier-Daire, V., J.Cullen, P., Saitoh, S., Kato, K. Tags: Open access Phenotypes Source Type: research