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Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit

Phenotypes of some rare genetic diseases are atypical and it is a challenge for pediatric intensive care units (PICUs) to diagnose and manage such patients in an emergency. In this study, we investigated 58 PICU patients (39 deceased and 19 surviving) in critical ill status or died shortly without a...

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Detalles Bibliográficos
Autores principales:	Liu, Juan, Zheng, Yu, Huang, Jiaotian, Zhu, Desheng, Zang, Ping, Luo, Zhenqing, Yang, Yongjia, Peng, Yu, Xiao, Zhenghui, Zhu, Yimin, Lu, Xiulan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292147/ https://www.ncbi.nlm.nih.gov/pubmed/34298581 http://dx.doi.org/10.1002/humu.24266

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