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Thyroid Hormone Receptor α Mutation Causes a Severe and Thyroxine-Resistant Skeletal Dysplasia in Female Mice
A new genetic disorder has been identified that results from mutation of THRA, encoding thyroid hormone receptor α1 (TRα1). Affected children have a high serum T(3):T(4) ratio and variable degrees of intellectual deficit and constipation but exhibit a consistently severe skeletal dysplasia. In an at...
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| Main Authors: | , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Endocrine Society
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4138578/ https://ncbi.nlm.nih.gov/pubmed/24914936 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/en.2013-2156 |
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