Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.
D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000378:metabolism*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006042:Goiter / Q000235:genetics*; D006339:Heart Rate; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007455:Iodine / Q000378:metabolism; D007457:Iodine Radioisotopes; D007700:Kinetics; D008297:Male; D012026:Reflex, Stretch; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000378:metabolism; D013963:Thyroid Hormones / Q000494:pharmacology*; D013975:Thyroxine-Binding Proteins
D007457:Iodine Radioisotopes; D013963:Thyroid Hormones; D013975:Thyroxine-Binding Proteins; D007455:Iodine