Whole-exome sequencing for hemifacial microsomia

Hemifacial microsomia (HFM) is a rare congenital disease characterized by a spectrum of craniomaxillofacial malformations, particularly including unilateral hypoplasia of the mandible and surrounding structures. Previous studies have suggested that genetic factors likely underlie HFM; however, to date, these remain unclear. We used whole-exome sequencing to screen 52 patients with HFM for rare germline mutations.