Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia

Eur J Pediatr. 2007 Dec;166(12):1285-8. doi: 10.1007/s00431-006-0383-x. Epub 2006 Dec 29.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Consanguinity
  • DNA Helicases / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Mutation
  • Nephrotic Syndrome / complications*
  • Nephrotic Syndrome / genetics
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / genetics
  • Pulmonary Embolism / diagnosis
  • Pulmonary Embolism / etiology*

Substances

  • SMARCAL1 protein, human
  • DNA Helicases