| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
TRHR thyrotropin releasing hormone receptor [KO: K04282]
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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 |
Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G |
|---|
| Title |
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. |
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| Journal |
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| Reference |
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|---|
| Authors |
Bonomi M, Busnelli M, Beck-Peccoz P, Costanzo D, Antonica F, Dolci C, Pilotta A, Buzi F, Persani L |
|---|
| Title |
A family with complete resistance to thyrotropin-releasing hormone. |
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| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Romero CJ, Nesi-Franca S, Radovick S |
|---|
| Title |
The molecular basis of hypopituitarism. |
|---|
| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Peters C, van Trotsenburg ASP, Schoenmakers N |
|---|
| Title |
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives |
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| Journal |
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| LinkDB |
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