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

Pubblicato online: 30 dic 2015

Pagine: 65 - 70

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

Parole chiave

CHARGE syndrome, Coloboma, CHD7 gene, Choanal atresia, Double tandem base substitution

© Balkan Journal of Medical Genetics

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