| Entry |
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| Name |
TSHR inactivating mutation
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| Type |
Loss of function
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| Gene |
TSHR thyroid stimulating hormone receptor [KO: K04249]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Variation |
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| Variation |
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| Variation |
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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 |
Ma SG, Fang PH, Hong B, Yu WN |
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| Title |
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. |
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| Journal |
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| Reference |
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| Authors |
Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S |
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| Title |
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. |
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| Journal |
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| Reference |
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| Authors |
Clifton-Bligh RJ, Gregory JW, Ludgate M, John R, Persani L, Asteria C, Beck-Peccoz P, Chatterjee VK |
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| Title |
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. |
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| Journal |
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| Reference |
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| Authors |
Peters C, van Trotsenburg ASP, Schoenmakers N |
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| Title |
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives |
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| Journal |
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| Reference |
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| Authors |
Vono-Toniolo J, Kopp P |
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| Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
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| Journal |
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| LinkDB |
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