Molecular genetics of heritable blistering disorders

Arch Dermatol. 2001 Nov;137(11):1458-61. doi: 10.1001/archderm.137.11.1458.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Basement Membrane / abnormalities
  • Epidermolysis Bullosa / classification
  • Epidermolysis Bullosa / genetics*
  • Epidermolysis Bullosa / pathology
  • Genetic Counseling
  • Genetic Therapy
  • Humans
  • Phenotype
  • Prenatal Diagnosis
  • Prognosis