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    Article

    Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency

    The variant thyroxine-binding globulin in a family from Montreal (TBG-M) has a reduced affinity for thyroxine, shows a slight cathodal shift on isoelectric focusing, and has an increased susceptibility to inac...

    Onno E. Janssen, Kyoko Takeda, Samuel Refetoff in Human Genetics (1991)

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    Article

    Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

    Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly rega...

    Helmut Grasberger, Martine Vaxillaire, Silvana Pannain, John C. Beck… in Human Genetics (2005)