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PDFPhenotypes
Original research
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
- 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
Citation
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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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.