Cargando…
Genetic and genomic analysis of classic aniridia in Saudi Arabia
PURPOSE: To determine the genetic and genomic alterations underlying classic aniridia in Saudi Arabia, a region with social preference for consanguineous marriage. METHODS: Prospective study of consecutive patients referred to a pediatric ophthalmologist in Saudi Arabia (2005–2009). All patients had...
Autores principales: | Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060157/ https://www.ncbi.nlm.nih.gov/pubmed/21423868 |
Ejemplares similares
-
Genetics and genomic medicine in Saudi Arabia
por: Alkuraya, Fowzan S
Publicado: (2014) -
Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations
por: Khan, Arif O., et al.
Publicado: (2011) -
Molecular characterization of retinitis pigmentosa in Saudi Arabia
por: Aldahmesh, Mohammed A., et al.
Publicado: (2009) -
Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families
por: Khan, Arif O., et al.
Publicado: (2009) -
A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype
por: Aldahmesh, Mohammed A., et al.
Publicado: (2010)