Whole ‐exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis

ConclusionPatients with facial asymmetry, micrognathia, choanal atresia and microcephaly should be analyzed for variants in EFTUD2 gene. Next‐generation sequencing techniques, such as whole‐exome sequencing offer great promise to improve the understanding of etiologies of sporadic genetic diseases.

Source: Orthodontics and Craniofacial Research - June 23, 2017 Category: Dentistry Authors: S. Rengasamy Venugopalan, E. G. Farrow, M. Lypka Tags: ORIGINAL ARTICLE Source Type: research