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...

Descripción completa

Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
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

Internet

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

Ejemplares similares