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

Shiomi Otsuji,Yosuke Nishio,Maki Tsujita,Marlene Rio,Céline Huber,Carlos Antón-Plágaro,Seiji Mizuno,Yoshihiko Kawano,Satoko Miyatake,Marleen Simon,Ellen van Binsbergen,Richard H van Jaarsveld,Naomichi Matsumoto,Valerie Cormier-Daire,Peter J Cullen,Shinji Saitoh,Kohji Kato

Journal of medical genetics（2023）

引用 7|浏览22

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摘要

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.

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genetics, medical

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