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.
1. |
Park SM et al. (2005) Genetics of congenital hypothyroidism. |
2. |
Moreno JC et al. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. |
3. |
Vigone MC et al. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. |
4. |
OMIM.ORG article Omim 607200 |