Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion

The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain hel...

Full description

Bibliographic Details
Main Authors: Giray Bozkaya Ozlem, Ataman E., Randa C., Onur Cura D., Gürsoy S., Aksel O., Ulgenalp A.
Format: Article
Language:English
Published: Sciendo 2015-06-01
Series:Balkan Journal of Medical Genetics
Subjects:
charge syndrome
coloboma
chd7 gene
choanal atresia
double tandem base substitution
Online Access:https://doi.org/10.1515/bjmg-2015-0007

Similar Items

Similar Items