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Clinical and Molecular Findings in Early Infant Death Associated with Genetic Diseases: A Multicenter Cohort Study in China

2020-12-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> To investigate the impact of exome sequencing in critically ill infants and find out high-risk patients with genetic diseases for the 180-day mortality rate. <bold>Results</bold> A molecular diagnosis rate achieved in 203 of 439 (46.2%) sequenced infants. 60 of 203 (29.5%) diagnosed patients died before 180 days of life. Compared to the undiagnosed-cases, patient...

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Literature Corpus work
941ad639-64c9-5f6d-995a-8e270ca1145d
DOI
10.21203/rs.3.rs-122657/v1
Open publication

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Clinical and Molecular Findings in Early Infant Death Associated with Genetic Diseases: A Multicenter Cohort Study in ChinaDOI 10.21203/rs.3.rs-122657/v1
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