Article
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
The Journal of clinical endocrinology and metabolism - 1 May 1998
Grüters A, Schöneberg T, Biebermann H, Krude H, Krohn H P, Dralle H, Gudermann T
Abstract excerpt
Gain of function mutations in the TSH receptor (TSHR) have been identified as the molecular basis for congenital and acquired forms of autonomous thyroid function. Herein, we report the molecular characterization of a case of severe congenital hyperthyroidism with a history of hyperthyroidism in the paternal aunt and the paternal grandmother, who were both found to be heterozygous for a mutation (R528H) located...
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