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Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China
BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region. METHODS: 3331 individuals was recruited from June 2013 to December 2016...
Autores principales: | Liu, Chang, Zhang, Xiangzhong, Wang, Jicheng, Zhang, Yan, Wang, Anshi, Lu, Jian, Huang, Yanlin, Liu, Shu, Wu, Jing, Du, Li, Yang, Jie, Ding, Hongke, Liu, Ling, Zhao, Xin, Yin, Aihua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378742/ https://www.ncbi.nlm.nih.gov/pubmed/30820248 http://dx.doi.org/10.1186/s13039-019-0420-x |
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