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Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series

7 Sept 2023

Abstract excerpt

SUMMARY: Axenfeld-Rieger syndrome is an autosomal dominant condition associated with multisystemic features including developmental anomalies of the anterior segment of the eye. Single nucleotide and copy number variants in the paired-like homeodomain transcription factor 2 (PITX2) and forkhead box C1 (FOXC1) genes are associated with Axenfeld-Rieger syndrome as well as other CNS malformations. We determined the...

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PMID: 37679021
DOI: 10.3174/ajnr.a7995

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