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

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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Rui Wang, Wei-Qian Wang, Xiao-Qin Li, Juan Zhao, Kun Yang, Yong Feng, Meng-Meng Guo, Min Liu, Xing Liu, Xi Wang, Yong-Yi Yuan, Xue Gao, Jin-Cao Xu
Μορφή:	Άρθρο
Γλώσσα:	English
Έκδοση:	BMC 2021-11-01
Σειρά:	BMC Medical Genomics
Θέματα:	FOXC1 Whole exome sequencing Axenfeld-Rieger syndrome
Διαθέσιμο Online:	https://doi.org/10.1186/s12920-021-01130-7

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