Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders

1. Lorca, R.
2. Pannone, L.
3. Cuesta-Llavona, E.
4. Bocchinfuso, G.
5. Rodríguez-Reguero, J.
6. Carpentieri, G.
7. Hernando, I.
8. Flex, E.
9. Tartaglia, M.
10. Coto, E.
11. Gómez, J.
12. Martinelli, S.