Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Clin Genet. 2018 May;93(5):1111-1113. doi: 10.1111/cge.13151. Epub 2018 Jan 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / pathology
  • Comparative Genomic Hybridization
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / pathology
  • Genetic Predisposition to Disease
  • Gigantism / genetics*
  • Gigantism / pathology
  • Glypicans / genetics*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology

Substances

  • GPC3 protein, human
  • Glypicans

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome