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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886535/
https://www.ncbi.nlm.nih.gov/pubmed/31824579
http://dx.doi.org/10.3389/fgene.2019.01201