A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.

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Abstract

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 with clinical euthyroidism.

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Journal

Journal ID (iso-abbrev): Thyroid

Title: Thyroid : official journal of the American Thyroid Association

Publisher: Mary Ann Liebert Inc

ISSN (Electronic): 1557-9077

ISSN (Print): 1050-7256

Publication date (Electronic): Aug 2015

Volume: 25

Issue: 8

Affiliations

[1 ] 1 Department of Medicine, The University of Chicago , Chicago, Illinois.

[2 ] 2 Paediatric Department at Copenhagen University Hospital , Herlev, Denmark .

[3 ] 3 Department of Molecular Modeling, Discovery, Research and Development, AbbVie, North Chicago, Illinois.

[4 ] 4 Department of Pediatrics and the Committee on Genetics, The University of Chicago , Chicago, Illinois.

Article

DOI: 10.1089/thy.2015.0096

PMC ID: 4533086

PubMed ID: 25950606

SO-VID: 08f16dc1-38dd-4207-a08b-95b7099eb6cc

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