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Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism

13 Mar 2023

Abstract excerpt

Objective: Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis, but it is unclear which patients would benefit most from the genetic investigation. We aimed to investigate the genetic etiology of transient CH (TCH) and permanent CH (PCH) in a well-characterized cohort, and thereby evaluate the impact of genetic testing on the...

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PMID: 36913313
DOI: 10.1530/etj-22-0212

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