Thyroid dyshormonogenesis 3 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the TG gene.
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None (1972) A goitrous subject with structural abnormality of thyroglobulin. ![]() |
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None (1987) Merging autosomal dominance and recessivity. ![]() |
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Hishinuma A et al. (2006) Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. ![]() |
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Kitanaka S et al. (2006) A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. ![]() |
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Hishinuma A et al. (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. ![]() |
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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![]() |