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

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

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...

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Bibliographic Details
Main Authors: Jianrong Zhou, Ying Zheng, Guiying Liang, Xiaoli Xu, Jian Liu, Shaoxian Chen, Tongkai Ge, Pengju Wen, Yong Zhang, Xiaoqing Liu, Jian Zhuang, Yueheng Wu, Jimei Chen
Format: Article
Language:English
Published: BMC 2022-04-01
Series:BMC Medical Genomics
Subjects:
Atypical deletion
Williams–Beuren syndrome
Genotype–phenotype correlation
Intellectual disability
Growth restriction
Online Access:https://doi.org/10.1186/s12920-022-01227-7

Internet

https://doi.org/10.1186/s12920-022-01227-7

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