"Liu-Liang-Chung" syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation

• Main Authors: Wei-Liang Liu (Author), Fang Li (Author), Wei Chen (Author), Lu Liu (Author), Hai-jian Cheng (Author), Zhi-Xu He (Author), Rong Ai (Author)
• Format: Book
• Published: BMC, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Contiguous gene gain syndrome including entire ZEB2 may be a novel syndrome. In the past, there were no easily distinct and recognizable features as a guide for precise clinical and genetic diagnosis of the syndrome. Case presentation We report a novel case with the syndrome with...