Die Thyroiddyshormonogenesis 1 ist eine autosomal rezessive Erkrankung der Schilddrüsenhormonbildung mit ungenügenden Schilddrüsenhormonwerten und Struma, die durch Mutationen im SLC5A5-Gen verursacht wird.
1. |
Park SM et al. (2005) Genetics of congenital hypothyroidism. |
2. |
Vono-Toniolo J et al. (2005) Naturally occurring mutations in the thyroglobulin gene. |
3. |
Fujiwara H et al. (1997) Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. |
4. |
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. |
5. |
Kempers MJ et al. (2009) Morphological abnormalities in children with thyroidal congenital hypothyroidism. |
6. |
Toyoshima K et al. (1977) Five cases of absence of iodide concentrating mechanism. |
7. |
Medeiros-Neto GA et al. (1972) Partial defect of iodide trapping mechanism in two siblings with congenital goiter and hypothyroidism. |
8. |
STANBURY JB et al. (1960) Congenital hypothyroidism with goitre. Absence of an iodide-concentrating mechanism. |
9. |
GILBOA Y et al. (1963) GOITROUS MYXEDEMA DUE TO IODIDE TRAPPING DEFECT. |
10. |
OMIM.ORG article Omim 274400 |