Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes

Blood. 2014 Jun 19;123(25):4002-4. doi: 10.1182/blood-2014-02-553685.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 8 / genetics*
  • Deubiquitinating Enzymes
  • Factor VIII / genetics*
  • Gene Deletion
  • Hemophilia A / complications
  • Hemophilia A / genetics*
  • Hemophilia A / pathology
  • Humans
  • Magnetic Resonance Angiography
  • Male
  • Membrane Proteins / genetics*
  • Moyamoya Disease / complications
  • Moyamoya Disease / diagnosis
  • Moyamoya Disease / genetics*
  • Sequence Analysis, DNA / methods
  • Severity of Illness Index

Substances

  • Membrane Proteins
  • F8 protein, human
  • Factor VIII
  • BRCC3 protein, human
  • Deubiquitinating Enzymes