Zusammenfassung
Bei der Krankheitsgruppe der Osteochondrodysplasien handelt es sich um genetisch bedingte, generalisierte Entwicklungsstörungen des Knorpel-Knochen-Gewebes. Ihre Gesamthßufigkeit liegt bei etwa 4:10000–10:10000, wobei die Gruppe hunderte z. T. sehr seltener Krankheiten umfasst. Ihre Heterogenitßt erklßrt sich aus der Vielzahl von involvierten Genen, Molekülen, Proteininteraktionen, Zellen und Gewebsbereichen, die an der Bildung, dem Wachstum und der Homöostase des Skeletts beteiligt sind und deren Störung zu einem jeweils anderen Krankheitsbild führen kann.
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Zabel, B., Winterpacht, A. (2000). Osteochondrodysplasien Genetisch bedingte Störungen der Skelettentwicklung. In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 2. Handbuch der Molekularen Medizin, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57044-5_8
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