Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Rec...
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor ( TSHR )
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Genetic defects in the TSH receptor (
) can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild hyperthyrotropinemia. Over 250
variants have been published, many uncharacterized in vitro. We aimed to geneti...
Alternative Titles
Full title
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor ( TSHR )
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11432690
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11432690
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms251810032
