Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges

Primary congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and may be etiologically subdivided into thyroid dysgenesis, referring to abnormal thyroid development, and dyshormonogenesis, where a defective thyroid hormone biosynthesis pathway results in inadequate hormone p...

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Bibliographic Details
Main Authors: Athanasia Stoupa, Aurore Carré, Michel Polak, Gabor Szinnai, Nadia Schoenmakers
Format: Article
Language:English
Published: Bioscientifica 2025-03-01
Series:European Thyroid Journal
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Online Access:https://etj.bioscientifica.com/view/journals/etj/14/2/ETJ-24-0348.xml
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