@article{article7ae48629,
title   = {De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy},
author = {Ragamin, Aviel and Gomes, Carolina C and Heus, Karen Bindels-de and Sandoval, Renata and Bassenden, Angelia Bassenden and Dib, Luciano and Kok, Fernando and Alves, Julieta and Mathijssen, Irene and Herik, Evita Medici-van den},
year = {2022},
doi = {10.1136/jmedgenet-2020-107427},
journal   = {Journal of medical genetics}
}