A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome
Abstract 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-o...
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| Auteurs principaux: | , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
BMC
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/01e95e3556b74eb9b9985d9b000e849b |
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