Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole‐exome sequencing

• Main Authors: Yeran Yang (Author), Wei Liu (Author), Yaqiong Jin (Author), Min Chen (Author), Jie Lu (Author), Yongbo Yu (Author), Huimin Ren (Author), Shujing Han (Author), Ping Chu (Author), Yongli Guo (Author), Jie Zhang (Author), Xin Ni (Author)
• Format: Book
• Published: Wiley, 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

ABSTRACT Importance First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level. Objective To identify genomic alterations related to the genetic...