Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die Thyroiddyshormonogenesis 1 ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im SLC5A5-Gen verursacht wird.
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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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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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