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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Bibliographic Details
Published in:	J Clin Endocrinol Metab
Main Authors:	Aycan, Zehra, Cangul, Hakan, Muzza, Marina, Bas, Veysel N., Fugazzola, Laura, Chatterjee, V. Krishna, Persani, Luca, Schoenmakers, Nadia
Format:	Artigo
Language:	Inglês
Published:	Endocrine Society 2017
Subjects:	Case Reports
Online Access:	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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Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

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