Study

Genetic Basis of Isolated Arhinia and Bosma Arhinia Microphthalmia Syndrome

Study ID Alternative Stable ID Type
phs001246 Case-Control

Study Description

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.

Archive Link Archive Accession
dbGaP phs001246

Who archives the data?

There are no publications available