stomatognathic diseases

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

Journal of Medical Genetics Mar 2022, 59 (3) 305-312; DOI: 10.1136/jmedgenet-2020-107427

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stomatognathic diseases