Resistance to thyroid hormone syndrome with developmental disorders in two children
Patient 1, a 4-year-old boy, presented with delayed language development. Persistently elevated free triiodothyronine (FT3) and free thyroxine (FT4) were found, with normal or elevated thyroid-stimulating hormone (TSH). A de novo heterozygous mutation in the THRB gene (c.1373T>C, p.Val458Ala) was id...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Chinês |
| Pubblicazione: |
Hunan Xiangya Medical Periodical Press Co., Ltd.
2026-01-01
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| Serie: | 中国当代儿科杂志 |
| Soggetti: | |
| Accesso online: | https://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2504083 |
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