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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2011
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3198484/
https://ncbi.nlm.nih.gov/pubmed/22025892
Tagiau: Ychwanegu Tag
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