Genome-wide association study on craniofacial microsomia

Craniofacial microsomia encapsulates congenital anomalies of the external and middle ear, maxilla, mandible, facial and trigeminal nerves, and surrounding soft tissues on the affected side. The recruitment of craniofacial microsomia samples is a huge problem to bind the investigation of its genetic basis because of the lower prevalence rate (ranging between 1 and 4 per 10,000 births) and consultation rate. Here, we performed the first genome-wide associations study on craniofacial microsomia and identified many significant loci associated with craniofacial microsomia. To investigate the loci associated with craniofacial microsomia, we performed GWAS on patients from China .