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

por Ragamin, Aviel, Gomes, Carolina C, Bindels-de Heus, Karen, Sandoval, Renata, Bassenden, Angelia V, Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, Gomez, Ricardo Santiago
Publicado 2022

Familial STAG2 germline mutation defines a new human cohesinopathy

por Soardi, Fernanda C., Machado-Silva, Alice, Linhares, Natália D., Zheng, Ge, Qu, Qianhui, Pena, Heloísa B., Martins, Thaís M. M., Vieira, Helaine G. S., Pereira, Núbia B., Melo-Minardi, Raquel C., Gomes, Carolina C., Gomez, Ricardo S., Gomes, Dawidson A., Pires, Douglas E. V., Ascher, David B., Yu, Hongtao, Pena, Sérgio D. J.
Publicado 2017