De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy - Ragamin, Aviel; Gomes, Carolina C; Heus, Karen Bindels-de; Sandoval, Renata; Bassenden, Angelia Bassenden; Dib, Luciano; Kok, Fernando; Alves, Julieta; Mathijssen, Irene; Herik, Evita Medici-van den (Journal of medical genetics, 2022)