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

• Main Authors: Lusi Zhang (Author), Yingqian Peng (Author), Pingbo Ouyang (Author), Youling Liang (Author), Huilan Zeng (Author), Nuo Wang (Author), Xuanchu Duan (Author), Jingming Shi (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...