Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X
Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X
About this item
Full title
Author / Creator
Publisher
Washington, DC: Endocrine Society
Journal title
Language
English
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Publication information
Publisher
Washington, DC: Endocrine Society
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Scope and Contents
Contents
Transducin β-like 1 X-linked (TBL1X) gene encodes a subunit of the nuclear corepressor-silencing mediator for retinoid and thyroid hormone receptor complex (NCoR-SMRT) involved in repression of thyroid hormone action in the pituitary and hypothalamus. TBL1X defects were recently associated with central hypothyroidism and hearing loss. The current s...
Alternative Titles
Full title
Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6300407
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6300407
Other Identifiers
ISSN
2472-1972
E-ISSN
2472-1972
DOI
10.1210/js.2018-00144
