Mutations in TBL1X Are Associated With Central Hypothyroidism

CONTEXT: Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation in the transducin β-like protein 1, X-linked (TBL1X) gene in three relatives diagnosed with isolated CeH. TBL1X...

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Udgivet i:J Clin Endocrinol Metab
Main Authors: Heinen, Charlotte A., Losekoot, Monique, Sun, Yu, Watson, Peter J., Fairall, Louise, Joustra, Sjoerd D., Zwaveling-Soonawala, Nitash, Oostdijk, Wilma, van den Akker, Erica L. T., Alders, Mariëlle, Santen, Gijs W. E., van Rijn, Rick R., Dreschler, Wouter A., Surovtseva, Olga V., Biermasz, Nienke R., Hennekam, Raoul C., Wit, Jan M., Schwabe, John W. R., Boelen, Anita, Fliers, Eric, van Trotsenburg, A. S. Paul
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2016
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5155687/
https://ncbi.nlm.nih.gov/pubmed/27603907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-2531
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