Thyroid dyshormonogenesis 4 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the IYD gene.
1. |
HUTCHISON JH et al. (1954) Hypothyroidism as an inborn error of metabolism. |
2. |
Moreno JC et al. (2008) Mutations in the iodotyrosine deiodinase gene and hypothyroidism. |
3. |
Afink G et al. (2008) Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. |
4. |
KUSAKABE T et al. (1963) Defective deiodination of I-131-labeled L-diiodotyrosine in patients with simple goiter. |
5. |
KUSAKABE T et al. (1964) THYROIDAL DEIODINATION DEFECT IN THREE SISTERS WITH SIMPLE GOITER. |
6. |
Ismail-Beigi F et al. (1977) A variant of iodotyrosine-dehalogenase deficiency. |
7. |
Rochiccioli P et al. (1974) [Thyroid hormonosynthesis disorders due to iodotyrosine-dehalogenase deficiency. Value of the D.I.T. test for the detection of heterozygotes]. |
8. |
Codaccioni JL et al. () [Infantile hypothyroidism caused by iodotyrosine-dehalogenase deficiency. II. Results of iodine treatment in 5 cases (8 years of recession in 1 case]. |
9. |
OMIM.ORG article Omim 274800 |