Maternal isodisomy causing homozygosity for a dominant activating mutation of the luteinizing hormone receptor gene in a boy with familial male-limited precocious puberty

Clin Endocrinol (Oxf). 2003 Oct;59(4):533-4. doi: 10.1046/j.1365-2265.2003.01810.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Chromosomes, Human, Pair 2 / genetics*
  • Diploidy*
  • Homozygote*
  • Humans
  • Male
  • Mutation
  • Puberty, Precocious / genetics*
  • Receptors, LH / genetics*

Substances

  • Receptors, LH