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High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

21 Sept 2018

Abstract excerpt

OBJECTIVE: Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients' inclusion criteria and bioinformatics. The objective was to study the molecular basis of severe congenital hypothyroidism, using the next generation sequencing (NGS) and the recent guidelines for assessment of sequence variants. DESIGN: 243 patients...

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PMID: 30240412
DOI: 10.1371/journal.pone.0204323

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