Thyroid Hormone Resistance With a Novel Mutation
Kulsum Khan, Alak Moriwala, Zainab Siddiqui · 2024
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Description
Syndrome of thyroid hormone resistance (THR) is a rare inherited condition characterized by a reduced responsiveness of the tissues to the thyroid hormone. The syndrome is caused primarily by mutations in the thyroid hormone receptor beta (THRB) gene, leading to impaired hormone receptor function. It is a diagnosis of exclusion and often leads to delays in establishing the diagnosis.
Catalog record
| CREATOR | Kulsum Khan, Alak Moriwala, Zainab Siddiqui |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 6 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |