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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Detalhes bibliográficos
Publicado no:Thyroid
Main Authors: Pappa, Theodora, Johannesen, Jesper, Scherberg, Neal, Torrent, Maricel, Dumitrescu, Alexandra, Refetoff, Samuel
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2015
Assuntos:
Original StudiesThyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Acesso em linha: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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