Das juvenile Paget-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im TNFRSF11A-Gen hervorgerufen wird. Die Erkrankung ist durch einen erhöhten Knochenumsatz charakterisiert, der kortikalen und trabekulären Verdickungen und damit zu Knochendeformitäten, Wachstumstörungen und Frakturen führt.
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Hughes AE et. al. (2000) Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. |
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Whyte MP et. al. (2002) Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. |
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Whyte MP et. al. (2014) Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK. |
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Cody JD et. al. (1997) Genetic linkage of Paget disease of the bone to chromosome 18q. |
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Haslam SI et. al. (1998) Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity. |
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