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...
Saved in:
Main Authors: | Rui Wang (Author), Wei-Qian Wang (Author), Xiao-Qin Li (Author), Juan Zhao (Author), Kun Yang (Author), Yong Feng (Author), Meng-Meng Guo (Author), Min Liu (Author), Xing Liu (Author), Xi Wang (Author), Yong-Yi Yuan (Author), Xue Gao (Author), Jin-Cao Xu (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2021-11-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Axenfeld-Rieger syndrome. Presentation of a case
by: Armando Rafael Milanés Armengol, et al.
Published: (2020) -
Dental and craniofacial anomalies associated with Axenfeld-Rieger syndrome
by: Amit Khatri, et al.
Published: (2019) -
A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review
by: Kaiming Li, et al.
Published: (2021) -
Identification of the first intragenic deletion of the <it>PITX2 </it>gene causing an Axenfeld-Rieger Syndrome: case report
by: Dufier Jean-Louis, et al.
Published: (2006) -
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
by: Lusi Zhang, et al.
Published: (2019)