Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2

Hum Mol Genet. 1995 Apr;4(4):763-6. doi: 10.1093/hmg/4.4.763.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bernard-Soulier Syndrome / diagnosis
  • Bernard-Soulier Syndrome / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22*
  • DiGeorge Syndrome / genetics*
  • Face / abnormalities
  • Gene Deletion*
  • Heart Defects, Congenital / genetics
  • Humans
  • Hybrid Cells
  • Infant
  • Platelet Membrane Glycoproteins / genetics

Substances

  • Platelet Membrane Glycoproteins