Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

1. Barraza-García, J.
2. Rivera-Pedroza, C.I.
3. Salamanca, L.
4. Belinchón, A.
5. López-González, V.
6. Sentchordi-Montané, L.
7. del Pozo, A.
8. Santos-Simarro, F.
9. Campos-Barros, A.
10. Lapunzina, P.
11. Guillén-Navarro, E.
12. González-Casado, I.
13. García-Miñaur, S.
14. Heath, K.E.