Congenital nongoitrous hypothyroidism 4 is an autosomal recessive disorder caused by mutations of the TSHB gene.
1. |
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2. |
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3. |
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4. |
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5. |
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6. |
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7. |
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8. |
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9. |
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10. |
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11. |
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12. |
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13. |
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14. |
Borck G et al. (2004) Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. |
15. |
Brumm H et al. (2002) Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect. |
16. |
Pohlenz J et al. (2002) Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. |
17. |
Vuissoz JM et al. (2001) New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. |
19. |
Doeker BM et al. (1998) Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance. |
20. |
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21. |
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22. |
OMIM.ORG article Omim 275100 |