Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
Bmc Medical Genetics
Lepri, Francesca Romana FR; Scavelli, Rossana R; Digilio, Maria Cristina MC; Gnazzo, Maria M; Grotta, Simona S; Dentici, Maria Lisa ML; Pisaneschi, Elisa E; Sirleto, Pietro P; Capolino, Rossella R; Baban, Anwar A; Russo, Serena S; Franchin, Tiziana T; Angioni, Adriano A; Dallapiccola, Bruno B