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Genotype-Phenotype Relationship in Patients with Mutations in Thyroid Hormone Transporter MCT8
Loss-of-function mutations in thyroid hormone transporter monocarboxylate transporter 8 (MCT8) lead to severe X-linked psychomotor retardation and elevated serum T(3) levels. Most patients, for example those with mutations V235M, S448X, insI189, or delF230, cannot stand, walk, or speak. Patients wit...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Endocrine Society
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2734492/ https://ncbi.nlm.nih.gov/pubmed/18187543 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/en.2007-1475 |
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