"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred

Pediatrics. 1974 Aug;54(2):201-7.
No abstract available

MeSH terms

  • Abnormalities, Multiple / genetics
  • Activation Analysis
  • Adult
  • Ceruloplasmin / blood
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, 13-15
  • Consanguinity
  • Copper / blood
  • Ethnicity
  • Female
  • Genes, Recessive
  • Growth Disorders / genetics*
  • Hair* / analysis
  • Hair* / pathology
  • Humans
  • Indiana
  • Infertility*
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Microscopy, Electron, Scanning
  • Microscopy, Polarization
  • Pedigree
  • Skin Diseases / genetics
  • Sulfur / analysis
  • Syndrome

Substances

  • Sulfur
  • Copper
  • Ceruloplasmin