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Whole-exome sequencing analysis to identify novel potential pathogenetic mutations in fetuses with abnormal brain structure.

Genetic mutations in genes related to the production, migration, or differentiation of cortical neurons can result in malformations of cortical development (MCDs). However, a large number of MCD-related pathogenetic mutations remain unknown. This study aimed to investigate the genetic cause of MCDs and to identify the new MCD-associated mutations through whole-exome sequencing (WES) in fetuses with abnormal brain structure.
Lili Shi, Ming Li, Hong Qi, Jianjiang Zhu, Jing Yang, Jie Tang, Longxia Wang

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