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Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum

Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common. Etiologies of ACC include chromosome errors, genetic factors,...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Jiang, Ying, Qian, Ye-Qing, Yang, Meng-Meng, Zhan, Qi-Tao, Chen, Yuan, Xi, Fang-Fang, Sagnelli, Matthew, Dong, Min-Yue, Zhao, Bai-Hui, Luo, Qiong
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6886535/
https://ncbi.nlm.nih.gov/pubmed/31824579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01201
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