Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome

Am J Med Genet A. 2010 Dec;152A(12):3179-81. doi: 10.1002/ajmg.a.33450.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Exons
  • Family
  • Gene Dosage
  • Gene Duplication*
  • Genetic Diseases, X-Linked*
  • Gigantism / genetics*
  • Glypicans / genetics*
  • Heterozygote
  • Humans
  • Limb Deformities, Congenital / genetics
  • Male
  • Pedigree
  • Syndrome

Substances

  • GPC4 protein, human
  • Glypicans