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

• Glavni autori: Wei-Liang Liu (Autor), Fang Li (Autor), Wei Chen (Autor), Lu Liu (Autor), Hai-jian Cheng (Autor), Zhi-Xu He (Autor), Rong Ai (Autor)
• Format: Knjiga
• Izdano: BMC, 2023-09-01T00:00:00Z.
• Teme: article
• Online pristup: 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...