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

Authors

  1. Correspondence to Dr Kohji Kato, Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya 464-8601, Japan; kohji.kato{at}bristol.ac.uk; Dr Shinji Saitoh, Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, 464-8601, Japan; ss11{at}med.nagoya-cu.ac.jp; Dr Peter J.Cullen, School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, Bristol BS8 1TD, United Kingdom; Pete.Cullen{at}bristol.ac.uk
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Citation

Otsuji S, Nishio Y, Tsujita M, et al
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Publication history

  • Received April 20, 2022
  • Accepted July 12, 2022
  • First published September 16, 2022.
Online issue publication 
March 20, 2023

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