Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve hypoplasia and the presence of glaucoma, catara...

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Detalles Bibliográficos
Autores principales: Wang, Grace M., Prasov, Lev, Al-Hasani, Hayder, Marrs, Colin E. R., Tolia, Sahil, Wiinikka-Buesser, Laurel, Richards, Julia E., Bohnsack, Brenda L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904767/
https://www.ncbi.nlm.nih.gov/pubmed/29850208
http://dx.doi.org/10.1155/2018/5978293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904767/
https://www.ncbi.nlm.nih.gov/pubmed/29850208
http://dx.doi.org/10.1155/2018/5978293

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