The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia

Birth Defects Orig Artic Ser. 1971 Jun;7(8):91-5.

Abstract

Ectodermal dysplasia of the Clouston type is a disease caused by a single dose of an autosomal dominant gene. It appears to involve only the skin and its appendages. An investigation of the physical and chemical abnormalities of the hair protein in this disease is beginning to throw some light on the action of the gene involved.

MeSH terms

  • Ectodermal Dysplasia / genetics*
  • Genes, Dominant
  • Hair / abnormalities*
  • Hair / drug effects
  • Humans
  • Keratosis
  • Nails, Malformed
  • Phenylalanine / analysis
  • Proline / analysis
  • Serine / analysis
  • Sulfur / analysis
  • Tyrosine / analysis
  • Urea / pharmacology
  • Water / pharmacology

Substances

  • Water
  • Tyrosine
  • Serine
  • Phenylalanine
  • Sulfur
  • Urea
  • Proline