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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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Dettagli Bibliografici
Pubblicato in:Thyroid
Autori principali: Pappa, Theodora, Johannesen, Jesper, Scherberg, Neal, Torrent, Maricel, Dumitrescu, Alexandra, Refetoff, Samuel
Natura: Artigo
Lingua:Inglês
Pubblicazione: Mary Ann Liebert, Inc. 2015
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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