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...
| Autori principali: | , , , , , , , , , , , , |
|---|---|
| Natura: | Articolo |
| Lingua: | English |
| Pubblicazione: |
BMC
2021-11-01
|
| Serie: | BMC Medical Genomics |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s12920-021-01130-7 |