Article
Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
BMC medical genomics - 4 Apr 2022
Zhou Jianrong, Zheng Ying, Liang Guiying, Xu Xiaoli, Liu Jian, Chen Shaoxian, Ge Tongkai, Wen Pengju, Zhang Yong, Liu Xiaoqing, Zhuang Jian, Wu Yueheng, Chen Jimei
Abstract excerpt
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 larger deletions. One patient had normal neurodevelopment with a deletion of genes on the distal side of the Williams-Beuren...
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