A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome

Autor: De Crescenzo, Agostina, Coppola, Filomena, Falco, Pietro, Bernardo, Italo, Ausanio, Gaetano, Cerrato, Flavia, Falco, Luigi, Riccio, Andrea
Zdroj: In European Journal of Medical Genetics July-August 2011 54(4):e451-e454
Databáze: ScienceDirect