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Original research
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
- Correspondence to Grazia Maria Simonetta Mancini, Clinical Genetics, Erasmus MC, Rotterdam 3015 GD, The Netherlands; g.mancini{at}erasmusmc.nl; Dr Ricardo Santiago Gomez, Department of Oral Surgery and Pathology, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; rsgomez{at}ufmg.br
Citation
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy
Publication history
- Received September 10, 2020
- Revised December 7, 2020
- Accepted December 26, 2020
- First published March 8, 2021.
Online issue publication
February 18, 2022
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© Author(s) (or their employer(s)) 2022. 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/.