Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis‐Hyperphosphatemia Syndrome

ABSTRACT 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...

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Veröffentlicht in:	Journal of bone and mineral research 2016-10, Vol.31 (10), p.1845-1854
Hauptverfasser:	Ramnitz, Mary Scott, Gourh, Pravitt, Goldbach‐Mansky, Raphaela, Wodajo, Felasfa, Ichikawa, Shoji, Econs, Michael J, White, Kenneth E, 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:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Calcinosis - blood Calcinosis - genetics Calcinosis - pathology Calcinosis - therapy Child Cohort Studies FAMILIAL TUMORAL CALCINOSIS Female FIBROBLAST GROWTH FACTOR 23 Fibroblast Growth Factors - genetics Glucuronidase - genetics Humans Hyperostosis - blood Hyperostosis - genetics Hyperostosis - pathology Hyperostosis - therapy Hyperostosis, Cortical, Congenital - blood Hyperostosis, Cortical, Congenital - genetics Hyperostosis, Cortical, Congenital - pathology Hyperostosis, Cortical, Congenital - therapy HYPEROSTOSIS‐HYPERPHOSPHATEMIA SYNDROME HYPERPHOSPHATEMIA Hyperphosphatemia - blood Hyperphosphatemia - genetics Hyperphosphatemia - pathology Hyperphosphatemia - therapy Klotho Proteins Male N-Acetylgalactosaminyltransferases - genetics Polypeptide N-acetylgalactosaminyltransferase
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