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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Detalles Bibliográficos
Autores principales: Palayil, Isham, Priya, S G, Sivan, N V Sarath, Madhivanan, Nivean, Venkatachalam, Panneer Selvam, Jagadeesan, Madhavan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819101/
https://www.ncbi.nlm.nih.gov/pubmed/29380764
http://dx.doi.org/10.4103/ijo.IJO_311_17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819101/
https://www.ncbi.nlm.nih.gov/pubmed/29380764
http://dx.doi.org/10.4103/ijo.IJO_311_17

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