Molecular diagnostics in genodermatoses [Molekulare Diagnostik bei Genodermatosen]

被引：0
|
作者：
Laimer M. [1 ]
Bauer J.W. [1 ]
Lang R. [1 ]
机构：
[1] Universitätsklinik für Dermatologie, Paracelsus Medizinische Privatuniversität Salzburg, Müllner Hauptstraße 48, Salzburg
来源：
Der Hautarzt | 2015年 / 66卷 / 3期
关键词：
Epidermolysis bullosa; Extracutaneous manifestation; Molecular aberrations; Mutation analysis; Orphan diseases;
D O I：
10.1007/s00105-014-3577-6
中图分类号：
学科分类号：
摘要：
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. © 2015, Springer-Verlag Berlin Heidelberg.
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页码：203 / 213
页数：10
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