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

BACKGROUND: 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 ca...

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Detalles Bibliográficos
Autores principales: Shi, Lili, Li, Ming, Qi, Hong, Zhu, Jianjiang, Yang, Jing, Tang, Jie, Wang, Longxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8246198/
https://www.ncbi.nlm.nih.gov/pubmed/34268420
http://dx.doi.org/10.21037/atm-21-1477