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A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications
Background: Thyrotropin (TSH) deficiency caused by TSHβ gene mutations is a rare form of congenital central hypothyroidism. Nine different TSHβ gene mutations have been reported, all with clinical manifestations. The aim was to identify the genetic cause of undetectable TSH levels in two siblings wi...
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| Pubblicato in: | Thyroid |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Mary Ann Liebert, Inc.
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4533086/ https://ncbi.nlm.nih.gov/pubmed/25950606 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2015.0096 |
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