Smith-Lemli-Opitz syndrome: further delineation of the phenotype

Clin Dysmorphol. 1997 Jul;6(3):263-6. doi: 10.1097/00019605-199707000-00011.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Adrenal Glands / metabolism
  • Cholesterol / metabolism
  • Cleft Lip / genetics
  • Cleft Lip / pathology
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital
  • Male
  • Phenotype
  • Smith-Lemli-Opitz Syndrome / genetics
  • Smith-Lemli-Opitz Syndrome / metabolism
  • Smith-Lemli-Opitz Syndrome / pathology*

Substances

  • Cholesterol