Article

A Novel Variant in FOXC1 Associated With Atypical Axenfeld-Rieger Syndrome

2021-09-23

Abstract excerpt

<h4>Background: </h4> Mutations in the Forkhead Box C1 ( FOXC1 ) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-onset of ocular disorders and lack of typical presentation, therefore, clinical diagnosis present a hug...

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Literature Corpus work: 781a2f24-59f1-5cd1-8cf5-26f0825c441e
DOI: 10.21203/rs.3.rs-822675/v1

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