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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

17 May 2017

Abstract excerpt

Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related...

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PMID: 28513611
DOI: 10.1038/ejhg.2017.59

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