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Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
BACKGROUND: Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T(3)) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, characte...
Autores principales: | Rodrigues, Filipa, Grenha, Joana, Ortez, Carlos, Nascimento, Andrés, Morte, Beatriz, M-Belinchón, Monica, Armstrong, Judith, Colomer, Jaume |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287395/ https://www.ncbi.nlm.nih.gov/pubmed/25284458 http://dx.doi.org/10.1186/1471-2431-14-252 |
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