| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
TSHB thyrotropin subunit beta isoform 1 precursor [KO: K05251]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) |
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| Reference |
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| Authors |
Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K |
|---|
| Title |
Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. |
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| Journal |
|
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| Reference |
|
|---|
| Authors |
Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC |
|---|
| Title |
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. |
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| Journal |
Am J Hum Genet 46:988-93 (1990) |
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| Reference |
|
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| Authors |
Vono-Toniolo J, Kopp P |
|---|
| Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
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| Journal |
|
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| Reference |
|
|---|
| Authors |
Muthukrishnan J, Harikumar KV, Verma A, Modi K |
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| Title |
Central hypothyroidism. |
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| Journal |
|
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| Reference |
|
|---|
| Authors |
Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N |
|---|
| Title |
Molecular spectrum of TSHbeta subunit gene defects in central hypothyroidism in the UK and Ireland. |
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| Journal |
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| LinkDB |
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