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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Pubblicato in:J Clin Endocrinol Metab
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2016
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Original Articles
Accesso online: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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