Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay

• Main Authors: Xuemei Zhao (Author), Bingbing Wu (Author), Huiyao Chen (Author), Ping Zhang (Author), Yanyan Qian (Author), Xiaomin Peng (Author), Xinran Dong (Author), Yaqiong Wang (Author), Gang Li (Author), Chenbin Dong (Author), Huijun Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Craniosynostosis is a premature fusion of cranial sutures, resulting in abnormally shaped skull and brain development disorder. The description of craniosynostosis in patients with BCL11B mutations is rare. Here, we firstly report a 25-month-old Chinese boy with a novel frameshift variant in BCL11B...