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.
Ishay
Avraham
A
Dumitrescu
Alexandra
A
Luboshitzky
Rafael
R
Rakover
Yardena
Y
Refetoff
Samuel
S
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*
D011988:Receptors, Thyroid Hormone; D013963:Thyroid Hormones; D013912:Threonine; D011392:Proline