Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?

Am J Med Genet. 1999 Oct 29;86(5):503-4.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / metabolism
  • Cholesterol / biosynthesis*
  • Cholesterol / blood*
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22*
  • Eczema / genetics
  • Female
  • Follow-Up Studies
  • Genes, Recessive
  • Growth Disorders / genetics
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Lipids / blood
  • Microcephaly / genetics
  • Skin / metabolism
  • Skin / pathology
  • Syndrome

Substances

  • Lipids
  • Cholesterol