996 resultados para 229-2


Relevância:

60.00% 60.00%

Publicador:

Resumo:

Human genodermatoses represent a broad and partly confusing spectrum of countless rare diseases with confluent and overlapping phenotypes often impeding a precise diagnosis in an affected individual. High-throughput sequencing techniques have expedited the identification of novel genes and have dramatically simplified the establishment of genetic diagnoses in such heterogeneous disorders. The precise genetic diagnosis of a skin disorder is crucial for the appropriate counselling of patients and their relatives regarding the course of the disease, prognosis and recurrence risks. Understanding the underlying pathophysiology is a prerequisite to understanding the disease and developing specific, targeted or individualized therapeutic approaches. We aimed to create a comprehensive overview of human genodermatoses and their respective genetic aetiology known to date. We hope this may represent a useful tool in guiding dermatologists towards genetic diagnoses, providing patients with individual knowledge on the respective disorder and applying novel research findings to clinical practice.

Relevância:

60.00% 60.00%

Publicador:

Resumo:

u.a.: Publikation: "Arthur Schopenhauer, his life and his philosophy" von 1876; Gerücht über den Tod Gwinners; Ethik; Angilbert Göbel; Alexander Schweizer; Julius Frauenstädt; Georg Carl Rudolph Seydel;