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Hintergrund Die Diagnose seltener Erkrankungen erfolgt häufig verzögert. Grund dafür ist ein Mangel an spezifischem Krankheitswissen und Krankheitsbewusstsein angesichts der Vielzahl der Erkrankungen. Fragestellung Wie werden seltene Erkrankungen diagnostiziert? Können typische diagnostische Fehler in Fällen seltener Erkrankungen vermieden werden? Material und Methode Der Weg zur Diagnose einer...