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

Authors

  • Kohji Kato Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Aichi, Japan Department of Pediatrics, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Aichi, Japan Department of Pediatrics, Toyota Memorial Hospital, Toyota, Aichi, Japan PubMed articlesGoogle scholar articles
  • Yasuyoshi Oka Department of Human Genetics and Molecular Genetics, Nagoya University, Nagoya, Aichi, Japan Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, Japan PubMed articlesGoogle scholar articles
  • Hideki Muramatsu Department of Pediatrics, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Aichi, Japan PubMed articlesGoogle scholar articles
  • Filipp F Vasilev Department of Pathophysiology and Metabolism, Kawasaki Medical School, Kurashiki, Okayama, Japan International Research Fellow of Japan Society for the Promotion of Science (Postdoctoral Fellowships for Research in Japan (Standard)), Tokyo, Japan PubMed articlesGoogle scholar articles
  • Takanobu Otomo Department of Pathophysiology and Metabolism, Kawasaki Medical School, Kurashiki, Okayama, Japan PubMed articlesGoogle scholar articles
  • Hisashi Oishi Department of Comparative and Experimental Medicine, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Aichi, Japan PubMed articlesGoogle scholar articles
  • Yoshihiko Kawano Department of Pediatrics, Toyota Memorial Hospital, Toyota, Aichi, Japan PubMed articlesGoogle scholar articles
  • Hiroyuki Kidokoro Department of Pediatrics, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Aichi, Japan Department of Pediatrics, Toyota Memorial Hospital, Toyota, Aichi, Japan PubMed articlesGoogle scholar articles
  • Yuka Nakazawa Department of Human Genetics and Molecular Genetics, Nagoya University, Nagoya, Aichi, Japan Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, Japan PubMed articlesGoogle scholar articles
  • Tomoo Ogi Department of Human Genetics and Molecular Genetics, Nagoya University, Nagoya, Aichi, Japan Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Aichi, Japan PubMed articlesGoogle scholar articles
  • Yoshiyuki Takahashi Department of Pediatrics, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Aichi, Japan PubMed articlesGoogle scholar articles
  • Shinji Saitoh Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Aichi, Japan PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Shinji Saitoh, Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya 464-8601, Japan; ss11{at}med.nagoya-cu.ac.jp
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Citation

Kato K, Oka Y, Muramatsu H, et al
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex

Publication history

  • Received April 9, 2019
  • Revised September 23, 2019
  • Accepted September 24, 2019
  • First published November 11, 2019.
Online issue publication 
March 24, 2020

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