Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11

J Pediatr. 1997 Jul;131(1 Pt 1):164-5. doi: 10.1016/s0022-3476(97)70144-6.
No abstract available

Publication types

  • Letter

MeSH terms

  • Chromosomes, Human, Pair 22* / genetics
  • Craniofacial Abnormalities / genetics*
  • Craniosynostoses / genetics
  • Diagnosis, Differential
  • Extracellular Matrix Proteins / genetics*
  • Fibrillin-1
  • Fibrillins
  • Heart Defects, Congenital / genetics*
  • Humans
  • Marfan Syndrome / genetics
  • Microfilament Proteins / genetics*
  • Monosomy / genetics*
  • Mutation / genetics*
  • Phenotype
  • Syndrome

Substances

  • Extracellular Matrix Proteins
  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins