The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia.
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.
D004476:Ectodermal Dysplasia / Q000235:genetics*; D005799:Genes, Dominant; D006197:Hair / Q000002:abnormalities* / Q000187:drug effects; D006801:Humans; D007642:Keratosis; D009264:Nails, Malformed; D010649:Phenylalanine / Q000032:analysis; D011392:Proline / Q000032:analysis; D012694:Serine / Q000032:analysis; D013455:Sulfur / Q000032:analysis; D014443:Tyrosine / Q000032:analysis; D014508:Urea / Q000494:pharmacology; D014867:Water / Q000494:pharmacology
D014867:Water; D014443:Tyrosine; D012694:Serine; D010649:Phenylalanine; D013455:Sulfur; D014508:Urea; D011392:Proline