Diagnostic exome sequencing identifies alterations in GLI2 and PTCH1 in a previously undiagnosed patient with holoprosencephaly, seizures, and hypopituitarism

Date:
Tuesday, Mar 24, 2015 12:00am – 12:00pm
Conference:
ACMG 2015
Authors:
Adele Schneider, Brigette Tippin Davis, Cameron Mroske, Sarah Witherington, Zöe Powis