Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is functional deficiency of, or resistance to, intact...

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Publié dans:J Bone Miner Res
Auteurs principaux: Ramnitz, Mary Scott, Gourh, Pravitt, Goldbach-Mansky, Raphaela, Wodajo, Felasfa, Ichikawa, Shoji, Econs, Michael J., White, Kenneth, Molinolo, Alfredo, Chen, Marcus Y., Heller, Theo, Del Rivero, Jaydira, Seo-Mayer, Patricia, Arabshahi, Bita, Jackson, Malaka B., Hatab, Sarah, McCarthy, Edward, Guthrie, Lori C., Brillante, Beth A., Gafni, Rachel I., Collins, Michael T.
Format: Artigo
Langue:Inglês
Publié: 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5071128/
https://ncbi.nlm.nih.gov/pubmed/27164190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2870
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