Article

Whole Exome Sequencing as a Diagnostic Tool of Primary Complement Component Deficiencies: A Multicenter Experience of Three Novel Mutations

2021-05-04

Abstract excerpt

<title>Abstract</title> <p>Diagnosis of primary complement deficiencies requires a high index of suspicion. Thus, susceptible patients are often underdiagnosed and untreated. Here, we present a multi-center experience with three novel inborn errors of the classical complement system. This is a retrospective multicenter analysis of computerized medical records of children (> 18 years) admitted in the period betwee...

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Literature Corpus work: 76771df7-c880-5d2e-abae-65f1af01b97d
DOI: 10.21203/rs.3.rs-405295/v1

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