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Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis

Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF remains a challenge which is essential to address for prenatal counseling. We extracted DNA from a pro...

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Detalles Bibliográficos
Autores principales: Chen, Yuan, Jiang, Ying, Chen, Bangwu, Qian, Yeqing, Liu, Jiao, Yang, Mengmeng, Zhao, Baihui, Luo, Qiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8375471/
https://www.ncbi.nlm.nih.gov/pubmed/34421994
http://dx.doi.org/10.3389/fgene.2021.684555