title: A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child.
authors.forename: Avraham
authors.initials: A
authors.lastname: Ishay
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dumitrescu
authors.forename: Rafael
authors.initials: R
authors.lastname: Luboshitzky
authors.forename: Yardena
authors.initials: Y
authors.lastname: Rakover
authors.forename: Samuel
authors.initials: S
authors.lastname: Refetoff
mesh_terms: D002648:Child; D004351:Drug Resistance; D005260:Female; D006801:Humans; D007557:Israel; D009154:Mutation; D010375:Pedigree; D011392:Proline / Q000235:genetics; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D013912:Threonine / Q000235:genetics; D013963:Thyroid Hormones / Q000378:metabolism*
chemical_list: D011988:Receptors, Thyroid Hormone; D013963:Thyroid Hormones; D013912:Threonine; D011392:Proline