Thyroid dyshormonogenesis 5 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the DUOXA2 gene.
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Zamproni I et al. (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. |
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OMIM.ORG article Omim 274900 |