Heterozygous deletion of exons 18 and 19 of IGF1R in an individual with short stature

Clin Dysmorphol. 2014 Jul;23(3):98-100. doi: 10.1097/MCD.0000000000000032.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Dwarfism / diagnosis*
  • Dwarfism / genetics
  • Exons
  • Genetic Association Studies
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Receptor, IGF Type 1 / genetics*
  • Sequence Deletion*

Substances

  • Receptor, IGF Type 1