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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...

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Detalles Bibliográficos
Autores principales: von Vopelius, E., Oheim, R., Amling, M., Rolvien, T., Beil, F. T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer London 2021
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