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

1. Rodríguez-García, M.E.
2. Cotrina-Vinagre, F.J.
3. Bellusci, M.
4. Martínez de Aragón, A.
5. Hernández-Sánchez, L.
6. Carnicero-Rodríguez, P.
7. Martín-Hernández, E.
8. Martínez-Azorín, F.