Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Thyroid dyshormonogenesis 6 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the DUOX2 gene.
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Park SM et al. (2005) Genetics of congenital hypothyroidism. 
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Moreno JC et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
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| 3. |
Vigone MC et al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
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OMIM.ORG article Omim 607200
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