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A Novel Mutation of NKX2-1 Affecting 2 Generations With Hypothyroidism and Choreoathetosis: Part of the Spectrum of Brain-Thyroid-Lung Syndrome

✍ Scribed by Williamson, S.; Kirkpatrick, M.; Greene, S.; Goudie, D.

Book ID
121493338
Publisher
SAGE Publications
Year
2014
Tongue
English
Weight
139 KB
Volume
29
Category
Article
ISSN
0883-0738

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Dual oxidases (DUOX) 1 and 2 are components of the thyroid H 2 O 2 -generating system. H 2 O 2 is used by thyroperoxidase to oxidize iodide for thyroid hormonogenesis. Mutations in the DUOX2 gene have been described in transient and permanent congenital thyroid dyshormonogenesis. We report here a no