Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

por Lourdes, Vega-Hanna, Mario, Sanz-Cuesta, Didac, Casas-Alba, Mercè, Bolasell, Loreto, Martorell, Leticia, Pías, Lucia, Feller Ana, Martínez-Monseny, Antonio Federico, Mercedes, Serrano
Publicado 2023

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

por Esperón-Moldes, Uxia, Ginarte-Val, Manuel, Rodríguez-Pazos, Laura, Fachal, Laura, Martín-Santiago, Ana, Vicente, Asunción, Jiménez-Gallo, David, Guillén-Navarro, Encarna, Sampol, Loreto Martorell, González-Enseñat, María Antonia, Vega, Ana
Publicado 2020