title: Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.
abstract: The 42nd Annual Symposium on the Biology of the Skin, entitled "The Genetics of Skin Disease", was held in Snowmass Village, Colorado, in July 1993. That meeting presented the opportunity to discuss how modern approaches to molecular genetics and molecular biology could be applied to understanding the mechanisms of skin diseases. The published proceedings of this meeting stated that "It is an opportune time to examine the genetics of skin disease" (Norris et al, 1994). Indeed, this meeting just caught the wave of early pioneering studies that have helped us to understand the molecular basis of a large number of genodermatoses. This overview presented in the 50th Annual Symposium on the biology of the skin, highlights the progress made in the molecular genetics of heritable skin diseases over the past decade.
authors.affiliation: Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA. Jouni.Uitto@mail.tju.edu
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.forename: Leena
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: Franziska
authors.initials: F
authors.lastname: Ringpfeil
mesh_terms: D004820:Epidermolysis Bullosa / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D015316:Genetic Therapy; D006801:Humans; D008967:Molecular Biology / Q000639:trends*; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy