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CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

Rare copy number variations (CNVs) are a known genetic etiology in neurodevelopmental disorders (NDD). Comprehensive CNV analysis was performed in 287 Chinese children with mental retardation and/or development delay (MR/DD) and their unaffected parents. When compared with 5,866 ancestry-matched con...

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Detalles Bibliográficos
Autores principales: Wang, Binbin, Ji, Taoyun, Zhou, Xueya, Wang, Jing, Wang, Xi, Wang, Jingmin, Zhu, Dingliang, Zhang, Xuejun, Sham, Pak Chung, Zhang, Xuegong, Ma, Xu, Jiang, Yuwu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891738/
https://www.ncbi.nlm.nih.gov/pubmed/27257017
http://dx.doi.org/10.1038/srep25954