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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Bibliografische gegevens
Hoofdauteurs: Bassett, J. H. Duncan, Boyde, Alan, Zikmund, Tomas, Evans, Holly, Croucher, Peter I., Zhu, Xuguang, Park, Jeong Won, Cheng, Sheue-yann, Williams, Graham R.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Endocrine Society 2014
Onderwerpen:
Thyroid-TRH-TSH
Online toegang: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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