Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders

• Main Authors: Jianrong Zhou (Author), Ying Zheng (Author), Guiying Liang (Author), Xiaoli Xu (Author), Jian Liu (Author), Shaoxian Chen (Author), Tongkai Ge (Author), Pengju Wen (Author), Yong Zhang (Author), Xiaoqing Liu (Author), Jian Zhuang (Author), Yueheng Wu (Author), Jimei Chen (Author)
• Format: Book
• Published: BMC, 2022-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Genes associated with specific neurocognitive phenotypes in Williams-Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams-Beuren syndrome; these deletions included seven smaller deletions and two l...