Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.
Vahid Reza YassaeeArash KhojastehFeyzollah Hashemi-GorjiHossein SadeghiHannaneh SafiaghdamReza MirfakhraiePublished in: Molecular genetics & genomic medicine (2022)
In summary, our investigation identified a novel pathogenic variant in the ANO5, responsible for gnathodiaphyseal dysplasia in a large Iranian family. Therefore, based on the present study, this variant can be helpful for diagnosis and effective management of GDD patients.