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Combining whole-exome sequencing with clinical data for genotype–phenotype correlation in patients with congenital hypothyroidism that include the DUOX2 gene variation

2023-02-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Clinical expression of <italic>DUOX2</italic> gene variants is differential in patients with congenital hypothyroidism (CH). We investigated whether the molecular etiology of <italic>DUOX2</italic> gene variants in CH patients can predict disease outcome, drug dosage, and follow-up period. Potential pathogenic variants were detected in 98 CH patients using whole...

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Literature Corpus work: b195916d-0f13-5a6d-beaf-9c12bdff5b18
DOI: 10.21203/rs.3.rs-2584451/v1

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