A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

por Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Bellusci, Marcello, Martínez de Aragón, Ana, Hernández-Sánchez, Laura, Carnicero-Rodríguez, Patricia, Martín-Hernández, Elena, Martínez-Azorín, Francisco
Publicado en Eur J Hum Genet (2019)