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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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| 出版年: | J Clin Endocrinol Metab |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Endocrine Society
2017
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| 主題: | |
| オンライン･アクセス: | 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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