Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes

por Rodríguez-López, Raquel, Gimeno-Ferrer, Fátima, do Santos, David Albuquerque, Ferrer-Bolufer, Irene, Luján, Carola Guzmán, Alcalá, Otilia Zomeño, García-Banacloy, Amor, Cogollos, Virginia Ballesteros, Juan, Carlos Sánchez
Publicado 2022

Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous F...

por Rodríguez-López, Raquel, García-Planells, Javier, Martínez-Matilla, Marina, Pérez-García, Cristian, García Banacloy, Amor, Guzmán Luján, Carola, Zomeño Alcalá, Otilia, Belchi Navarro, Joaquina, Martínez-León, Juan, Salguero-Bodes, Rafael
Publicado 2022