Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene

Clin Endocrinol (Oxf). 2010 May;72(5):716-8. doi: 10.1111/j.1365-2265.2009.03702.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Congenital Hypothyroidism / complications
  • Congenital Hypothyroidism / genetics*
  • DNA Mutational Analysis
  • Female
  • Goiter / complications
  • Goiter / genetics*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Pedigree
  • Thyroglobulin / genetics*

Substances

  • Thyroglobulin