Die Thyroiddyshormonogenesis 3 ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im TG-Gen verursacht wird.
2. |
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None (1972) A goitrous subject with structural abnormality of thyroglobulin. |
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9. |
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11. |
Lever EG et al. (1983) Inherited disorders of thyroid metabolism. |
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None (1987) Merging autosomal dominance and recessivity. |
13. |
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14. |
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15. |
Kanou Y et al. (2007) Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity. |
16. |
Hishinuma A et al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. |
17. |
Kitanaka S et al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. |
19. |
Hishinuma A et al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. |
20. |
Vono-Toniolo J et al. (2005) Naturally occurring mutations in the thyroglobulin gene. |
21. |
Baas F et al. (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. |
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OMIM.ORG article Omim 274700 |