Article
Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.
Endocrinology - 1 Sept 2014
Bassett J H Duncan, Boyde Alan, Zikmund Tomas, Evans Holly, Croucher Peter I, Zhu Xuguang, Park Jeong Won, Cheng Sheue-yann, Williams Graham R
Abstract excerpt
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 T3:T4 ratio and variable degrees of intellectual deficit and constipation but exhibit a consistently severe skeletal dysplasia. In an attempt to improve developmental delay and alleviate symptoms of hypothyroidism, patients are receiving varying doses and...
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