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Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

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 cent...

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Detalles Bibliográficos
Autores principales:	García, Marta, Barreda-Bonis, Ana C, Jiménez, Paula, Rabanal, Ignacio, Ortiz, Arancha, Vallespín, Elena, del Pozo, Ángela, Martínez-San Millán, Juan, González-Casado, Isabel, Moreno, José C
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300407/ https://www.ncbi.nlm.nih.gov/pubmed/30591955 http://dx.doi.org/10.1210/js.2018-00144

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