A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Abstract Background Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes PITX2 and FOXC1 have been identified within ARS pati...

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Bibliographic Details
Main Authors: Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Medical Genetics
Subjects:
Axenfeld-Rieger syndrome
PITX2
Targeted exome sequencing
Frameshift variation
Online Access:http://link.springer.com/article/10.1186/s12881-019-0840-9

Internet

http://link.springer.com/article/10.1186/s12881-019-0840-9

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