Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities – a Case Report

por Roa-Bautista, Adriel, López-Duarte, Mónica, Paz-Gandiaga, Nerea, San Segundo Arribas, David, Ocejo-Vinyals, J. Gonzalo
Publicado 2022

Novel frameshift variants expand the map of the genetic defects in IRF2BP2

por García-Aznar, José María, Maneiro Pampín, Emilia, García Ramos, Maite, Acuña Pérez, María José, Paz Gandiaga, Nerea, Minguell Domingo, Laura, Calavia, Olga, Soler-Palacin, Pere, Colobran, Roger, Novoa Bolívar, Erika M., Ocejo Vinyals, Javier Gonzalo
Publicado 2023