Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

PURPOSE: To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders. METHODS: We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed. Mosaicism was quantified in 147 patients by a Bayesian genotyper....

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Publicado en:Genet Med
Main Authors: Zhang, Qingping, Yang, Xiaoxu, Wang, Jiaping, Li, Jiarui, Wu, Qixi, Wen, Yongxin, Zhao, Ying, Zhang, Xiaoying, Yao, He, Wu, Xiru, Yu, Shujie, Wei, Liping, Bao, Xinhua
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group US 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752670/
https://ncbi.nlm.nih.gov/pubmed/30405208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0348-2
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