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Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

PURPOSE: To clinically and genetically characterize a distinct phenotype of congenital megalocornea (horizontal corneal diameter ≥13 mm) with secondary glaucoma from spherophakia and/or ectopia lentis during childhood in affected Saudi families. METHODS: Clinical exam, homozygosity scan, and candida...

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Detalles Bibliográficos
Autores principales: Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198484/
https://www.ncbi.nlm.nih.gov/pubmed/22025892