Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

por Cozijnsen, Luc, Plomp, Astrid S., Post, Jan G., Pals, Gerard, Bogunovic, Natalija, Yeung, Kak K., Niessen, Hans W. M., Goumans, Marie‐José T. H., Barge‐Schaapveld, Daniela Q. C. M., Micha, Dimitra
Publicado 2019

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

por Marsili, Luisa, van Lint, Freyja H. M., Russo, Francesco, van Spaendonck-Zwarts, Karin Y., Ader, Flavie, Bichon, Marie-Line, Faivre, Laurence, Houweling, Arjan C., Isidor, Bertrand, Lekanne Deprez, Ronald H., Cox, Moniek G. P. J., Wilde, Arthur A. M., Mazel, Benoit, Mercier, Sandra, Dooijes, Dennis, Millat, Gilles, Nguyen, Karine, Post, Jan G., Richard, Pascale, van de Beek, Irma, Vermeer, Alexa M. C., Boven, Ludolf, Jongbloed, Jan D. H., van Tintelen, J. Peter
Publicado 2023