Case Report: Novel FOXC1 variant c.311T>G (p.Ile104Ser) in a Chinese family with Axenfeld-Rieger syndrome

BackgroundJuvenile-onset open-angle glaucoma (JOAG) is a heterogeneous early-onset glaucoma subtype. Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder caused by FOXC1 variants, which may present with severe early-onset glaucoma and can be clinically mistaken for JOAG. This study aimed...

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Autors principals:	Bin Lin, Li Li, Dong-kan Li
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2026-06-01
Col·lecció:	Frontiers in Medicine
Matèries:	Axenfeld-Rieger syndrome FOXC1 incomplete penetrance juvenile-onset open-angle glaucoma novel variant whole-exome sequencing
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fmed.2026.1868263/full
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