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

Human mutation - 1 Nov 2021

Liu Juan, Zheng Yu, Huang Jiaotian, Zhu Desheng, Zang Ping, Luo Zhenqing, Yang Yongjia, Peng Yu, Xiao Zhenghui, Zhu Yimin, Lu Xiulan

Abstract excerpt

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 clear etiology. Whole exome sequencing was performed of 103 DNA samples from their families. Disease-causing...

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Identifiers

PMID: 34298581
DOI: 10.1002/humu.24266
PMCID: PMC9292147

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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