A new pathogenic variant in the FOXC1 gene has been identified as causing Axenfeld-Rieger syndrome, which is associated with significant ocular anterior segment dysgenesis. This discovery enhances the understanding of the genetic basis of this rare condition.
previously unreported pathogenic variant in foxc1 causing axenfeld rieger syndrome with significant ocular anterior segment dysgenesis
Original title: “Previously unreported pathogenic variant in FOXC1 causing Axenfeld-Rieger syndrome with significant ocular anterior segment dysgenesis.”