Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants

• Main Authors: Bo Tan (Author), Sihan Liu (Author), Xiaoshu Feng (Author), Xin Pan (Author), Guanhua Qian (Author), Li Liu (Author), Xu Zhang (Author), Hong Yao (Author), Xiaojing Dong (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional regulation, insulator activity, and regulation of chromatin structure, and is closely associated with intellectual developmental disorders. In this study, we report two unrelated Chinese patients with intellectual disab...