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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Bibliografiset tiedot
Julkaisussa:Thyroid
Päätekijät: Pappa, Theodora, Johannesen, Jesper, Scherberg, Neal, Torrent, Maricel, Dumitrescu, Alexandra, Refetoff, Samuel
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Mary Ann Liebert, Inc. 2015
Aiheet:
Original StudiesThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Linkit: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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