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...

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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

Internet

https://doi.org/10.1515/bjmg-2015-0007

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