Genetics of Arhinia

The goal of this project is to determine the genetic etiology of congenital arhinia and Bosma arhinia microphthalmia syndrome through a combination of whole-exome, whole-genome, and targeted sequencing followed by in silico, in vitro, and in vivo functional modeling. ]]> Whole exome sequencing: Patients with arhinia and available family members Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion: None]]>