Zusammenfassung
Die Erbkrankheiten des Bindegewebes (der razellulären Matrix) umfassen über 200, st seltene Krankheitsbilder. Nach dem phänotypischen Erscheinungsbild können Kategorien von Erbkrankheiten eingeteilt werden:
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1.
Störungen der Faserbildung z. B. Osteogenesis imperfecta
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2.
Störungen des Proteoglycanmetabolismus z. B. Mukopolysaccharidosen
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3.
Osteochondrodysplasien
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Stradner, M.H. (2012). Hereditäre Bindegewebserkrankungen. In: Dunky, A., Graninger, W., Herold, M., Smolen, J., Wanivenhaus, A. (eds) Praktische Rheumatologie. Springer, Vienna. https://doi.org/10.1007/978-3-211-88983-1_6
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