Clinical phenotype and mutant TRα1

A van Mullem, R van Heerebeek… - … England Journal of …, 2012 - Mass Medical Soc
A van Mullem, R van Heerebeek, D Chrysis, E Visser, M Medici, M Andrikoula, A Tsatsoulis…
New England Journal of Medicine, 2012Mass Medical Soc
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A father and daughter with a mutation in the nuclear receptor gene for thyroid hormone (THRA) have abnormal levels of thyroid hormone, normal thyrotropin levels, growth retardation, and mildly delayed motor and cognitive development.
The New England Journal Of Medicine