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

• Authors: Dima El-Khechen; Kelly Gonzalez; Layla Shahmirzadi; Sha Tang; Brigette Tippin Davis; Wenqi Zeng; AHM Mahbubul Huq; Lindsey Murray
• Collaborators: Karmanos Cancer Institute, Wayne State University
• Conference: ACMG 2014
• Date: Tuesday, Mar 25, 2014 12:00am - 12:00pm