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      Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.

      The Journal of Clinical Endocrinology and Metabolism
      Child, Child, Preschool, Chondrodysplasia Punctata, metabolism, Deafness, genetics, Female, Goiter, Heart Rate, Humans, Infant, Infant, Newborn, Iodine, Iodine Radioisotopes, diagnostic use, Kinetics, Male, Reflex, Stretch, Thyroid Function Tests, Thyroid Gland, Thyroid Hormones, pharmacology, Thyroxine-Binding Proteins

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