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

Added 388 days ago (28.04.2021)
Authors: Ragamin, A., Gomes, C. C., Bindels-de Heus, K., Sandoval, R., Bassenden, A. V., Dib, L., Kok, F., Alves, J., Mathijssen, I., Medici-Van den Herik, E., Eveleigh, R., Gayden, T., Pullens, B., Berghuis, A., van Slegtenhorst, M., Wilke, M., Jabado, N., Mancini, G. M. S., Gomez, R. S.
Journal: JMG Online
Read article