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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Publié dans:J Clin Endocrinol Metab
Auteurs principaux: 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
Langue:Inglês
Publié: Endocrine Society 2016
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Original Articles
Accès en ligne: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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