Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent...

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Bibliographic Details
Main Authors: Isham Palayil, S G Priya, N V Sarath Sivan, Nivean Madhivanan, Panneer Selvam Venkatachalam, Madhavan Jagadeesan
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2018-01-01
Series:Indian Journal of Ophthalmology
Subjects:
Aniridia
mutation screening
PAX6
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2018;volume=66;issue=2;spage=229;epage=232;aulast=Palayil

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http://www.ijo.in/article.asp?issn=0301-4738;year=2018;volume=66;issue=2;spage=229;epage=232;aulast=Palayil

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