Tenorio, Jair; Alarcón Arias, Pablo; Arias, Pedro; Dapia, Irene; Garcia Minaur, Sixto; Bralo, María Palomares; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio; Monseny, Antonio; Grondona, Fermina; Botet, Javier; Serrano, Mercedes; Solis, Mario; Santos Simarro, Fernando; Alvarez, Sara; Teixido Tura, Gisela; Jaen, Alberto; Gordo, Gema; Rivera, María Belén; Nevado, Julián; Hernández, Alicia; Cigudosa, Juan C.; Ruiz Pérez, Víctor; Tizzano, Eduardo; Lapunzina, Pablo (Nature, 2020)
Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic ...
