Session # n/a

Diagnostic exome sequencing identifies a novel homozygous alteration in DEAF1 further delineating the phenotypic spectrum

In the last three years, three individuals from two families have been reported with a homozygous DEAF1 mutation (c.676C>T) who all shared a phenotype characterized by microcephaly, brain abnormalities, and intellectual disability.

• Authors: Christian Gund; Wendy Alcaraz; Samin Sajan; Zöe Powis; A. Vashist; P. Suwannarat
• Conference: ASHG 2016
• Date: Sunday, Oct 16, 2016 11:00am - 12:00pm