Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications

Clin Genet. 2016 Jul;90(1):99-101. doi: 10.1111/cge.12725. Epub 2016 Feb 5.
No abstract available

Publication types

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

MeSH terms

  • Arrhythmias, Cardiac / diagnosis*
  • Arrhythmias, Cardiac / genetics
  • Female
  • Fetus*
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Gigantism / diagnosis*
  • Gigantism / genetics
  • Glypicans / genetics*
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • GPC3 protein, human
  • Glypicans

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome