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Article

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.

Journal of medical genetics - 1 Apr 2020

Kato Kohji, Oka Yasuyoshi, Muramatsu Hideki, Vasilev Filipp F, Otomo Takanobu, Oishi Hisashi, Kawano Yoshihiko, Kidokoro Hiroyuki, Nakazawa Yuka, Ogi Tomoo, Takahashi Yoshiyuki, Saitoh Shinji

Abstract excerpt

BACKGROUND: 3C/Ritscher-Schinzel syndrome is characterised by congenital cranio-cerebello-cardiac dysplasia, where CCDC22 and WASHC5 are accepted as the causative genes. In combination with the retromer or retriever complex, these genes play a role in endosomal membrane protein recycling. We aimed to identify the gene abnormality responsible for the pathogenicity in siblings with a 3C/Ritscher-Schinzel-like...

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PMID: 31712251
DOI: 10.1136/jmedgenet-2019-106213

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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