De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
Ragamin A, Gomes CC, Bindels-de Heus K, Sandoval R, Bassenden AV, 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 GMS, Gomez RS.
Ragamin A, et al. Among authors: pullens b.
J Med Genet. 2022 Mar;59(3):305-312. doi: 10.1136/jmedgenet-2020-107427. Epub 2021 Mar 8.
J Med Genet. 2022.
PMID: 33685999
Free PMC article.