A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome

• Main Authors: Haojie Sun (Author), Xinda Xu (Author), Binjun Chen (Author), Yanmei Wang (Author), Jihan Lyu (Author), Luo Guo (Author), Yasheng Yuan (Author), Dongdong Ren (Author)
• Format: Book
• Published: BMC, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequenc...