A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

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 o...

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Detalles Bibliográficos
Autores principales: Wang, Rui, Wang, Wei-Qian, Li, Xiao-Qin, Zhao, Juan, Yang, Kun, Feng, Yong, Guo, Meng-Meng, Liu, Min, Liu, Xing, Wang, Xi, Yuan, Yong-Yi, Gao, Xue, Xu, Jin-Cao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609746/
https://www.ncbi.nlm.nih.gov/pubmed/34809627
http://dx.doi.org/10.1186/s12920-021-01130-7

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