Begoña Ezquieta, José L Santomé, Atilano Carcavilla, Encarna Guillén-Navarro, Antonio Pérez-Aytés, Jaime Sánchez del Pozo, Sixto García-Miñaur, Emilia Castillo, Milagros Alonso, Teresa Vendrell, Alfredo Santana, Enrique Maroto, Liliana Galbis
INTRODUCTION AND OBJECTIVES: Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, clinical expressivity, and diagnostic yield are investigated. METHODS: The study included 643 patients (and 182 family members) diagnosed by dysmorphologists, cardiologists, and pediatric endocrinologists from 74 tertiary hospitals...
May 2012: Revista Española de Cardiología