Chediak-Higashi syndrome: Description of two novel homozygous missense mutations causing divergent clinical phenotype

1. Sánchez-Guiu, I.
2. Antón, A.I.
3. García-Barberá, N.
4. Navarro-Fernández, J.
5. Martínez, C.
6. Fuster, J.L.
7. Couselo, J.M.
8. Ortuño, F.J.
9. Vicente, V.
10. Rivera, J.
11. Lozano, M.L.