Diagnostic exome sequencing (DES) unmasks two discrete genetic etiologies in a patient with ataxia and epilepsy: Dual molecular diagnosis in a patient highlights the utility of diagnostic exome sequencing

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm
Conference:
ACMG 2014
Authors:
AHM Mahbubul Huq, Brigette Tippin Davis, Dima El-Khechen, Kelly Gonzalez, Layla Shahmirzadi, Lindsey Murray, Sha Tang, Wenqi Zeng