Die Thyroiddyshormonogenesis 4 ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im IYD-Gen verursacht wird.
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![]() |