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Bone Involvement in Hyperphosphatemic Familial Tumoral Calcinosis: A New Phenotypic Presentation
Mutations in FGF23, KL, and GALNT3 have been identified as the cause for the development of hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC typically present in childhood or adolescence with periarticular soft tissue deposits that eventually progress to disrupt normal joint...
Autores principales: | Freedman, J. Daniel, Novak, Rostislav, Bratman Morag, Sharon, Avitan-Hersh, Emily, Nikomarov, David |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Rambam Health Care Campus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8284990/ https://www.ncbi.nlm.nih.gov/pubmed/34270404 http://dx.doi.org/10.5041/RMMJ.10445 |
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