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

• প্রধান লেখক: Haojie Sun (লেখক), Xinda Xu (লেখক), Binjun Chen (লেখক), Yanmei Wang (লেখক), Jihan Lyu (লেখক), Luo Guo (লেখক), Yasheng Yuan (লেখক), Dongdong Ren (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2024-03-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...