Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Thyroid dyshormonogenesis 1 is an autosomal recessive disorder of thyroid hormone production characterized by insufficient plasma hormone levels and goiter. It is caused by mutations of the SLC5A5 gene.
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Kosugi S et al. (1998) Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
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Toyoshima K et al. (1977) Five cases of absence of iodide concentrating mechanism.
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Medeiros-Neto GA et al. (1972) Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism.
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STANBURY JB et al. (1960) Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism.
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GILBOA Y et al. (1963) GOITROUS MYXEDEMA DUE TO IODIDE TRAPPING DEFECT.
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OMIM.ORG article Omim 274400
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