title: [Molecular diagnostics in genodermatoses].
abstract: Many genodermatoses present early in life with a chronic and often debilitating, progressive course with multi-organ involvement and significant morbidity or even mortality. Therefore, timely determination of the correct diagnosis is highly needed to improve approaches of patient care. Considering the common geno- and phenotypic variability of genodermatoses, this is most accurately provided by means of molecular diagnostics. Characterization of disease-causing genetic aberrations along an algorithmic diagnostic approach further paves the way for strategies of targeted therapeutic intervention.
authors.affiliation: Universitätsklinik für Dermatologie, Paracelsus Medizinische Privatuniversität Salzburg, Müllner Hauptstraße 48, 5020, Salzburg, Österreich, m.laimer@salk.at.
authors.forename: Martin
authors.initials: M
authors.lastname: Laimer
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.forename: Roland
authors.initials: R
authors.lastname: Lang
mesh_terms: D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics*