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

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 del...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981662/
https://www.ncbi.nlm.nih.gov/pubmed/35379245
http://dx.doi.org/10.1186/s12920-022-01227-7

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