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Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation

This study introduced whole-exome sequencing (WES) in prenatal diagnosis of fetal bowel dilatation to improve the detection outcome when karyotype analysis and copy number variation sequencing (CNV-seq) were uninformative in detecting pathogenic variants. The work reviewed 28 cases diagnosed with fe...

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Detalles Bibliográficos
Autores principales: Bian, Xinyi, Yang, Xiao, Shi, Xinwei, Zeng, Wanjiang, Deng, Dongrui, Chen, Suhua, Qiao, Fuyuan, Feng, Ling, Wu, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199320/
https://www.ncbi.nlm.nih.gov/pubmed/37215495
http://dx.doi.org/10.1515/biol-2022-0598