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

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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Bibliographic Details
Main Authors: Ying Jiang, Ye-Qing Qian, Meng-Meng Yang, Qi-Tao Zhan, Yuan Chen, Fang-Fang Xi, Matthew Sagnelli, Min-Yue Dong, Bai-Hui Zhao, Qiong Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Genetics
Subjects:
whole-exome sequencing
de novo mutation
fetal agenesis of the corpus callosum
Sanger sequencing
prenatal diagnosis
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01201/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.01201/full

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