Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

CONTEXT: The DUOX2 enzyme generates hydrogen peroxide (H(2)O(2)), a crucial electron acceptor for the thyroid peroxidase–catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotyp...

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Publicat a:J Clin Endocrinol Metab
Autors principals: Aycan, Zehra, Cangul, Hakan, Muzza, Marina, Bas, Veysel N., Fugazzola, Laura, Chatterjee, V. Krishna, Persani, Luca, Schoenmakers, Nadia
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2017
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5587079/
https://ncbi.nlm.nih.gov/pubmed/28633507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-00529
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