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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

Authors

  1. 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
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Citation

Ragamin A, Gomes CC, Bindels-de Heus K, et al
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.

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