Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

PURPOSE: To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. METHODS: Ophthalmic examinations were conducted on...

Descripción completa

Detalles Bibliográficos
Autores principales: Ali, Manir, Buentello-Volante, Beatriz, McKibbin, Martin, Rocha-Medina, J. Alberto, Fernandez-Fuentes, Narcis, Koga-Nakamura, Wilson, Ashiq, Aruna, Khan, Kamron, Booth, Adam P., Williams, Grange, Raashid, Yasmin, Jafri, Hussain, Rice, Aine, Inglehearn, Chris F., Zenteno, Juan Carlos
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901196/
https://www.ncbi.nlm.nih.gov/pubmed/20664696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901196/
https://www.ncbi.nlm.nih.gov/pubmed/20664696

Ejemplares similares