De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Aviel Ragamin, Carolina C. Gomes, Karen Bindels-De Heus, Renata Sandoval, Angelia V. Bassenden, Luciano Dib, Fernando Kok, Julieta Alves, Irene Mathijssen, Evita Medici-Van Den Herik, Robert Eveleigh, Tenzin Gayden, Bas Pullens, Albert Berghuis, Marjon Van Slegtenhorst, Martina Wilke, Nada Jabado, Grazia Maria Simonetta Mancini*, Ricardo Santiago Gomez*

*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Medicine and Dentistry