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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...

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Detalhes bibliográficos
Publicado no:Rambam Maimonides Med J
Main Authors: Freedman, J. Daniel, Novak, Rostislav, Bratman Morag, Sharon, Avitan-Hersh, Emily, Nikomarov, David
Formato: Artigo
Idioma:Inglês
Publicado em: Rambam Health Care Campus 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8284990/
https://ncbi.nlm.nih.gov/pubmed/34270404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5041/RMMJ.10445
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