Three novel mutations causing complete T(4)-binding globulin deficiency.

  title={Three novel mutations causing complete T(4)-binding globulin deficiency.},
  author={Sirimon Reutrakul and Onno Eilard Janssen and Samuel Refetoff},
  journal={The Journal of clinical endocrinology and metabolism},
  volume={86 10},
Inherited T(4)-binding globulin deficiency is caused by mutations in the T(4)-binding globulin gene located on the X chromosome. We describe herein three novel mutations in three different families producing complete T(4)-binding globulin deficiency. The proposita of a family from Harwichport is a female with XO Turner's syndrome who expressed only the mutant T(4)-binding globulin allele. Her T(4)-binding globulin sequence has a 19-nucleotide deletion in the distal portion of exon 4. This… CONTINUE READING