SPECIALTY SCHOOL IN MEDICAL GENETICS
 

UNIVERSITY OF SIENA

 

UNIVERSITA' DEGLI STUDI  DI SIENA

 

 

Abstract during the specialty course

 

Carignani Giulia

 

Mari F, Grillo E, Lo Rizzo C, Pasquetti E, Carignani G, Bruttini M, Mencarelli MA, Meloni I, Marozza A, Ariani F, Renieri A. Why “diagnostic packages” in clinical practice? Implications of the use of one-step NGS test for MECP2, CDKL5, FOXG1 and MEF2C in the spectrum of Rett syndrome. Submitted for SIGU SORRENTO, 21-24 November 2012