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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Detalhes bibliográficos

Principais autores:	Bian Xinyi, Yang Xiao, Shi Xinwei, Zeng Wanjiang, Deng Dongrui, Chen Suhua, Qiao Fuyuan, Feng Ling, Wu Yuanyuan
Formato:	Artigo
Idioma:	Inglês
Publicado em:	De Gruyter 2023-05-01
Colecção:	Open Life Sciences
Assuntos:	whole-exome sequencing fetal bowel dilatation pathogenic variants prenatal diagnosis
Acesso em linha:	https://doi.org/10.1515/biol-2022-0598
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