Over the past decade, there has been tremendous progress in understanding the genetic basis of different forms of genodermatoses. Specifically, with the advent of technologies in molecular biology in general, an increasingly large number of gene defects have been identified in different genodermatoses, and mutations are now known to occur in more than 100 distinct genes in such a manner that the genetic lesions explain the spectrum of phenotypic manifestations encountered in these diseases.1
Uitto J, Pulkkinen L. Molecular Genetics of Heritable Blistering Disorders. Arch Dermatol. 2001;137(11):1458–1461. doi:10.1001/archderm.137.11.1458
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: