Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

Por Cristina Toledo‐Gotor, Cristina García‐Muro, Alberto García‐Oguiza, Mª. Luisa Poch‐Olivé, Mª. Yolanda Ruiz‐del Prado, Elena Domínguez‐Garrido
Publicado em 2022-05-01

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

Por Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Publicado em 2019-11-01