A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.

Autor: González-Tarancón, R., Salvador-Rupérez, E., Miramar Gallart, MD, Barroso, E., Díez García-Prieto, I., Pérez Delgado, R., López Pisón, J., García Jiménez, MC
Zdroj: Acta Clinica Belgica; Feb 2022, Vol. 77 Issue 1, p118-121, 4p
Databáze: Complementary Index