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Skeletal characterization in a patient with Hajdu-Cheney syndrome undergoing total knee arthroplasty
Hajdu-Cheney syndrome (HCS) is a rare genetic connective tissue disorder caused by gain-of-function mutations in the NOTCH2 gene. We report a 38-year-old male HCS patient with a history of multiple pathologic fractures, poor bone stock under intermittent antiresorptive therapy, and secondary osteoar...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer London
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387270/ https://www.ncbi.nlm.nih.gov/pubmed/33742215 http://dx.doi.org/10.1007/s00198-021-05914-6 |