Article
Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma.
JAMA ophthalmology - 1 Jun 2026
Maxwell Giorgina E, Schmidt Joshua M, Kolovos Antonia, Nguyen Thi T, Zamora-Alejo Katherine, Ruddle Jonathan B, Craig Michael Alex, Walland Mark, Brooks Anne M V, Bernatowicz Krzysztof, Guevarra Carmela B, Castor Francis Raymond, Collantes Edward Ryan, Sibulo Michael C, Siggs Owen M, Wiggs Janey L, Craig Jamie E, Souzeau Emmanuelle
Abstract excerpt
Importance: While FOXC1 single-nucleotide variants and deletions are well-established causes of Axenfeld-Rieger syndrome, few FOXC1 duplications have been reported. This study investigated families with duplications encompassing the FOXC1 gene to refine the associated phenotypic spectrum and contribution to glaucoma. Objective: To investigate the prevalence and phenotype of FOXC1 duplications in 2 large glaucoma...
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