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Quoted phrase not found in phrase index: "Tumoral calcinosis, hyperphosphatemic, familial, 3"
Page 1
A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.
Zuo Q, Yang W, Liu B, Yan D, Wang Z, Wang H, Deng W, Cao X, Yang J. Zuo Q, et al. Front Endocrinol (Lausanne). 2022 Sep 23;13:1008800. doi: 10.3389/fendo.2022.1008800. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36213261 Free PMC article.
The histopathological features were firm, rubbery masses comprising multiple nodules of calcified material bordered by the proliferation of mononuclear or multinuclear macrophages, osteoclastic-like giant cells, fibroblasts, and chronic inflammatory cells. The novel mutation c.48 …
The histopathological features were firm, rubbery masses comprising multiple nodules of calcified material bordered by the proliferation of …
Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT. Ramnitz MS, et al. J Bone Miner Res. 2016 Oct;31(10):1845-1854. doi: 10.1002/jbmr.2870. Epub 2016 Sep 20. J Bone Miner Res. 2016. PMID: 27164190 Free PMC article. Clinical Trial.
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 …
Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding …
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial cal …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellu …
Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.
Chakhtoura M, Ramnitz MS, Khoury N, Nemer G, Shabb N, Abchee A, Berberi A, Hourani M, Collins M, Ichikawa S, El Hajj Fuleihan G. Chakhtoura M, et al. Osteoporos Int. 2018 Sep;29(9):1987-2009. doi: 10.1007/s00198-018-4574-x. Epub 2018 Jun 20. Osteoporos Int. 2018. PMID: 29923062 Review.
While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense mutation), they presented with variable severity and age of disease onset (at 4 years in patient 1 and at 23 years in patient 2). ...
While the patients had the same previously reported FGF23 gene mutation (homozygous c.G367T variant in exon 3 leading to a missense m …
Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?
Jost J, Bahans C, Courbebaisse M, Tran TA, Linglart A, Benistan K, Lienhardt A, Mutar H, Pfender E, Ratsimbazafy V, Guigonis V. Jost J, et al. J Clin Endocrinol Metab. 2016 Jul;101(7):2810-5. doi: 10.1210/jc.2016-1087. Epub 2016 May 10. J Clin Endocrinol Metab. 2016. PMID: 27163355
DESIGN: We performed a retrospective study wherein clinical, radiological, and biological data before and after the application of the topical STS treatment were collected and analyzed. PATIENTS OR OTHER PARTICIPANTS: Three patients admitted to 3 different hospitals with a …
DESIGN: We performed a retrospective study wherein clinical, radiological, and biological data before and after the application of the topic …