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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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Detalles Bibliográficos
Autores principales: Freedman, J. Daniel, Novak, Rostislav, Bratman Morag, Sharon, Avitan-Hersh, Emily, Nikomarov, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rambam Health Care Campus 2021
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