Identification of a novel PAX6 mutation in a Chinese family with aniridia

Identification of a novel PAX6 mutation in a Chinese family with aniridia

Abstract Background This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. Methods The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing...

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Bibliographic Details
Main Authors: Jing-Jing Qiu, Qian Zhang, Zi-xin Geng, Min Liu, Zi-lin Zhong, Jian-jun Chen, Fei Liu
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Ophthalmology
Subjects:
Aniridia
Autosomal dominant inheritance
PAX6 gene
Mutation
Online Access:http://link.springer.com/article/10.1186/s12886-018-1009-6

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http://link.springer.com/article/10.1186/s12886-018-1009-6

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