Genetic Heterogeneity in the Ichthyoses

摘要: The inherited nature of many the ichthyotic disorders has been clear since their original clinical recognition, and early genetic studies Cockayne1 others provided some most conclusive examples simple Mendelian inheritance in human disease. During subsequent years an almost universal finding phenomenon heterogeneity; this proved particularly widespread ichthyoses, so that a considerable number distinct can now be recognized, addition to whose separate identity is less secure. major forms are summarized Table 14.1. accurate recognition heterogeneity fundamental our understanding underlying molecular basis group conditions, as investigation moving from purely descriptive phase study biochemical nature. In paper ways which may suspected established outlined, together with consequences resulting it.