{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:04:31Z","timestamp":1760144671687,"version":"build-2065373602"},"reference-count":75,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T00:00:00Z","timestamp":1715299200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Tumoral calcinosis is an extremely rare genetic disease caused by mutations in three genes, GALNT3, FGF23, and KL, which disrupt phosphorus metabolism. The hallmark of this condition is the formation of tumors in the soft tissues around the joints. Other phenotypic features of tumoral calcinosis are dental involvement and brain and vascular calcifications. The clinical case reported herein presents for the first time to the scientific community the c.202A&gt;G (p.Thr68Ala) mutation of the FGF23 gene, associated with a hyperphosphatemic variant of tumoral calcinosis and multiple severe vascular aneurysms. A female patient underwent multiple surgeries for tumor formations in her soft tissues that first appeared at the age of 12 months. On this occurrence, the patient was found to have hyperphosphatemia, low phosphate clearance, increased tubular reabsorption with normal levels of total and ionized calcium, vitamin D3, and parathyroid hormone, and no effect of treatment with sevelamer hydrochloride and a low-phosphate diet. At the age of 39, the patient underwent imaging studies due to edema and a pulsating formation in the neck area, which revealed multiple vascular aneurysms with thrombosis, for which she received operative and interventional treatment. In this connection, and because of the established phosphorus metabolism disturbance, a genetic disease was suspected. The sequence analysis and deletion\/duplication testing of the 358 genes performed on this occasion revealed that the woman was homozygous for a variant of the c.202A&gt;G (p.Thr68Ala) mutation of the FGF23 gene. The established mutation is not present in population databases. The presented clinical case is the first and only one in the world to demonstrate the role of this type of FGF23 gene mutation in the development of a hyperphosphatemic variant of tumoral calcinosis characterized by aggressive formation of multiple vascular aneurysms.<\/jats:p>","DOI":"10.3390\/life14050613","type":"journal-article","created":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T03:21:04Z","timestamp":1715311264000},"page":"613","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Sole Case of the FGF23 Gene Mutation c.202A&gt;G (p.Thr68Ala) Associated with Multiple Severe Vascular Aneurysms and a Hyperphosphatemic Variant of Tumoral Calcinosis\u2014A Case Report"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4213-8142","authenticated-orcid":false,"given":"Nevena Georgieva","family":"Ivanova","sequence":"first","affiliation":[{"name":"Department of Urology and General Medicine, Faculty of Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria"},{"name":"St Karidad MHAT, Karidad Medical Health Center, 4004 Plovdiv, Bulgaria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1001\/jama.1943.02840070018005","article-title":"Tumoral calcinosis","volume":"121","author":"Inclan","year":"1943","journal-title":"J. Am. Med. Ass."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"409","DOI":"10.12998\/wjcc.v2.i9.409","article-title":"Review of tumoral calcinosis: A rare clinico-pathological entity","volume":"2","author":"Fathi","year":"2014","journal-title":"World J. Clin. Cases"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"586","DOI":"10.7326\/0003-4819-96-5-586","article-title":"Hyperphosphatemic tumoral calcinosis: Association with elevation of serum 1,25-dihydroxycholecalciferol concentrations","volume":"96","author":"Prince","year":"1982","journal-title":"Ann. Intern. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/jid.2009.337","article-title":"Familial tumoral calcinosis: From characterization of a rare phenotype to the pathogenesis of ectopic calcification","volume":"130","author":"Sprecher","year":"2010","journal-title":"J. Investig. Dermatol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/s10038-006-0377-6","article-title":"Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred","volume":"51","author":"Specktor","year":"2006","journal-title":"J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/ng1358","article-title":"Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis","volume":"36","author":"Topaz","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/hmg\/ddi034","article-title":"An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia","volume":"14","author":"Orlik","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"293","DOI":"10.3389\/fendo.2020.00293","article-title":"Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management","volume":"11","author":"Boyce","year":"2020","journal-title":"Front. Endocrinol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/bmj.1.5637.142-a","article-title":"Tumoral calcinosis--An unrecognized disease","volume":"1","author":"McClatchie","year":"1969","journal-title":"BMJ"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/0002-9343(65)90164-6","article-title":"Tumoral calcinosis: A metabolic disease of obscure etiology","volume":"38","author":"Lafferty","year":"1965","journal-title":"Am. J. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1148\/rg.263055099","article-title":"Tumoral calcinosis: Pearls, polemics, and alternative possibilities","volume":"26","author":"Olsen","year":"2006","journal-title":"RadioGraphics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0899-7071(92)90091-M","article-title":"Tumoral calcinosis causing bone erosion in a renal dialysis patient","volume":"16","author":"Meltzer","year":"1992","journal-title":"Clin. Imaging"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1159\/000107069","article-title":"New aspect of renal phosphate reabsorption: The type IIc sodium-dependent phosphate transporter","volume":"27","author":"Miyamoto","year":"2007","journal-title":"Am. J. Nephrol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/ki.2008.218","article-title":"Does Fgf23\u2013klotho activity influence vascular and soft tissue calcification through regulating mineral ion metabolism?","volume":"74","author":"Memon","year":"2008","journal-title":"Kidney Int."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"781","DOI":"10.2215\/CJN.09570912","article-title":"Serum FGF23 and risk of cardiovascular events in relation to mineral metabolism and cardiovascular pathology","volume":"8","author":"Carlsson","year":"2013","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s002340050763","article-title":"Familial tumoral calcinosis: Association with cerebral and peripheral aneurysm formation","volume":"41","author":"Adams","year":"1999","journal-title":"Neuroradiology"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"569","DOI":"10.12659\/AJCR.892113","article-title":"Hyperphosphatemic familial tumoral calcinosis: Odontostomatologic management and pathological features","volume":"15","author":"Maiorano","year":"2014","journal-title":"Am. J. Case Rep."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1111\/j.1600-0714.1991.tb00423.x","article-title":"Dental lesions in tumoral calcinosis","volume":"20","author":"Burkes","year":"1991","journal-title":"J. Oral. Pathol. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1002\/ajmg.a.33337","article-title":"Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations","volume":"152A","author":"Ichikawa","year":"2010","journal-title":"Am. J. Med. Genet. Part. A"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1093\/ndt\/gfu324","article-title":"Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: A fibroblast growth factor 23 mutation identified by exome sequencing","volume":"29","author":"Shah","year":"2014","journal-title":"Nephrol. Dial. Transplant."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"5520","DOI":"10.1073\/pnas.1402218111","article-title":"Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis","volume":"111","author":"Tagliabracci","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1093\/glycob\/cwr183","article-title":"UDP-N-acetyl-\u03b1-d-galactosamine:polypeptide N-acetylgalactosaminyltransferases: Completion of the family tree","volume":"22","author":"Raman","year":"2015","journal-title":"Glycobiology"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S0022-3476(70)80081-6","article-title":"Cortical hyperostosis with hyperphosphatemia: A new syndrome?","volume":"77","author":"Melhem","year":"1970","journal-title":"J. Pediatr."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s11926-007-0038-6","article-title":"Tumoral calcinosis: New insights for the rheumatologist into a familial crystal deposition disease","volume":"9","author":"Sprecher","year":"2007","journal-title":"Curr. Rheumatol. Rep."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2684","DOI":"10.1172\/JCI31330","article-title":"A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis","volume":"117","author":"Ichikawa","year":"2007","journal-title":"J. Clin. Investig."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1172\/JCI18399","article-title":"FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting","volume":"112","author":"Riminucci","year":"2003","journal-title":"J. Clin. Investig."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.bone.2015.12.055","article-title":"Posttranslational processing of FGF23 in osteocytes during the osteoblast to osteocyte transition","volume":"84","author":"Yamamoto","year":"2016","journal-title":"Bone"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/j.kint.2017.11.018","article-title":"Erythropoietin induces bone marrow and plasma fibroblast growth factor 23 during acute kidney injury","volume":"93","author":"Toro","year":"2018","journal-title":"Kidney Int."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"153865","DOI":"10.1016\/j.metabol.2019.01.006","article-title":"Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting","volume":"103","author":"Bacchetta","year":"2019","journal-title":"Metabolism"},{"key":"ref_30","first-page":"4003","article-title":"The parathyroid is a target organ for FGF23 in rats","volume":"117","author":"Galitzer","year":"2007","journal-title":"J. Clin. Investig."},{"key":"ref_31","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (1993\u20132024). GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nrendo.2009.196","article-title":"The FGF23\u2013Klotho axis: Endocrine regulation of phosphate homeostasis","volume":"5","author":"Razzaque","year":"2009","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1365-4362.1996.tb02999.x","article-title":"Proposal for a pathogenesis-based classification of tumoral calcinosis","volume":"35","author":"Smack","year":"1996","journal-title":"Int. J. Dermatol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1259\/0007-1285-39-463-526","article-title":"Calcifying collagenolysis (tumoural calcinosis)","volume":"39","author":"Thomson","year":"1966","journal-title":"Br. J. Radiol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1046\/j.1365-2559.1997.6050831.x","article-title":"Tumoral calcinosis: A clinicopathological study of 111 cases with emphasis on the earliest changes","volume":"31","author":"Pakasa","year":"1997","journal-title":"Histopathology"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1097\/00000478-199308000-00004","article-title":"Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis","volume":"17","author":"Slavin","year":"1993","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1097\/00003086-198309000-00036","article-title":"Chemical, microscopic, and ultrastructural characterization of the mineral deposits in tumoral calcinosis","volume":"178","author":"Boskey","year":"1983","journal-title":"Clin. Orthop. Relat. Res."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"bcr2013008728","DOI":"10.1136\/bcr-2013-008728","article-title":"Hyperphosphatemic tumoral calcinosis","volume":"2013","author":"Mallick","year":"2013","journal-title":"BMJ Case Rep."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"4350","DOI":"10.1016\/j.radcr.2022.08.038","article-title":"A rare case of idiopathic tumoral calcinosis: Case report","volume":"17","author":"Laasri","year":"2022","journal-title":"Radiol. Case Rep."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1259\/0007-1285-47-562-734","article-title":"Tumoral calcinosis with sedimentation sign","volume":"47","author":"Hug","year":"1974","journal-title":"Br. J. Radiol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"134","DOI":"10.12968\/denu.2008.35.2.134","article-title":"Tumoral calcinosis with dental manifestations\u2014A case report","volume":"35","author":"Naikmasur","year":"2008","journal-title":"Dent. Updat."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1002\/jbmr.2870","article-title":"Phenotypic and genotypic characterization and treatment of a cohort with familial tumoral calcinosis\/hyperostosis-hyperphosphatemia syndrome","volume":"31","author":"Ramnitz","year":"2016","journal-title":"J. Bone Miner. Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"4472","DOI":"10.1210\/jc.2006-1247","article-title":"Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of Thegalnt3gene","volume":"91","author":"Ichikawa","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1001\/archopht.1988.01060130795020","article-title":"Band keratopathy and calcific lid lesions in tumoral calcinosis","volume":"106","author":"Bruns","year":"1988","journal-title":"Arch. Ophthalmol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/0002-9343(61)90131-0","article-title":"Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina","volume":"31","author":"McPhaul","year":"1961","journal-title":"Am. J. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1681\/ASN.2008020141","article-title":"Serum phosphorus levels associate with coronary atherosclerosis in young adults","volume":"20","author":"Foley","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1681\/ASN.2008040349","article-title":"Association of serum phosphate with vascular and valvular calcification in moderate CKD","volume":"20","author":"Adeney","year":"2009","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"217","DOI":"10.5551\/jat.5595","article-title":"Serum fibroblast growth factor-23 levels and progression of aortic arch calcification in non-diabetic patients on chronic hemodialysis","volume":"18","author":"Tamei","year":"2011","journal-title":"J. Atheroscler. Thromb."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.bone.2009.09.006","article-title":"High phosphorus diet induces vascular calcification, a related decrease in bone mass and changes in the aortic gene expression","volume":"46","year":"2010","journal-title":"Bone"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1161\/CIRCULATIONAHA.107.743161","article-title":"Vascular Calcification: Pathobiology of a multifaceted disease","volume":"117","author":"Demer","year":"2008","journal-title":"Circulation"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1161\/01.HYP.0000236599.91051.1e","article-title":"Increased ambulatory arterial stiffness index is associated with target organ damage in primary hypertension","volume":"48","author":"Leoncini","year":"2006","journal-title":"Hypertension"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/path.4949","article-title":"Aortic microcalcification is associated with elastin fragmentation in Marfan syndrome","volume":"243","author":"Wanga","year":"2017","journal-title":"J. Pathol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1006\/exmp.2002.2457","article-title":"Arterial enlargement in response to high flow requires early expression of matrix metalloproteinases to degrade extracellular matrix","volume":"73","author":"Shoab","year":"2002","journal-title":"Exp. Mol. Pathol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1007\/s10016-004-0050-5","article-title":"Elevated Expression of Matrix Metalloproteinase-13 in Abdominal Aortic Aneurysms","volume":"18","author":"Tromp","year":"2004","journal-title":"Ann. Vasc. Surg."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1161\/01.STR.30.7.1396","article-title":"Structural Fragility and Inflammatory Response of Ruptured Cerebral Aneurysms. A comparative study between ruptured and unruptured cerebral aneurysms","volume":"30","author":"Kataoka","year":"1999","journal-title":"Stroke"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"2532","DOI":"10.1161\/01.CIR.101.21.2532","article-title":"Prevention of rat cerebral aneurysm formation by inhibition of nitric oxide synthase","volume":"101","author":"Fukuda","year":"2000","journal-title":"Circulation"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.cardiores.2005.01.023","article-title":"Smooth muscle cells deficient in osteopontin have enhanced susceptibility to calcification in vitro","volume":"66","author":"Speer","year":"2005","journal-title":"Cardiovasc. Res."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Zhu, D., Mackenzie, N.C.W., Mill\u00e1n, J.L., Farquharson, C., and MacRae, V.E. (2011). The appearance and modulation of osteocyte marker expression during calcification of vascular smooth muscle cells. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0019595"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.mce.2013.03.008","article-title":"A protective role for FGF-23 in local defence against disrupted arterial wall integrity?","volume":"372","author":"Zhu","year":"2013","journal-title":"Mol. Cell. Endocrinol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1161\/CIRCRESAHA.108.183053","article-title":"Smooth muscle cells give rise to osteochondrogenic precursors and chondrocytes in calcifying arteries","volume":"104","author":"Speer","year":"2009","journal-title":"Circ. Res."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1007\/s00467-018-3945-z","article-title":"Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: What are the therapeutic options for a better control of phosphatemia?","volume":"33","author":"Carlier","year":"2018","journal-title":"Pediatr. Nephrol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.berh.2011.10.020","article-title":"Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and \u03b1Klotho)","volume":"25","author":"Farrow","year":"2011","journal-title":"Best. Pract. Res. Clin. Rheumatol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.2106\/00004623-198971080-00019","article-title":"Tumoral calcinosis: Successful medical treatment","volume":"71","author":"Gregosiewicz","year":"1989","journal-title":"A case report. J. Bone Jt. Surg. Am."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"741","DOI":"10.7326\/0003-4819-77-5-741","article-title":"Treatment of tumoral calcinosis with phosphorus deprivation","volume":"77","author":"Mozaffarian","year":"1972","journal-title":"Ann. Intern. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.2106\/00004623-198163070-00015","article-title":"Tumoral calcinosis. Report. of a case with successful medical management","volume":"63","author":"Kirk","year":"1981","journal-title":"J. Bone Jt. Surg."},{"key":"ref_66","first-page":"493","article-title":"Tumoral calcinosis: Clinical and metabolic response to phosphorus deprivation","volume":"63","author":"Davies","year":"1987","journal-title":"Q J. Med."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"247S","DOI":"10.1016\/8756-3282(95)00019-A","article-title":"Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide","volume":"16","author":"Yamaguchi","year":"1995","journal-title":"Bone"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"2810","DOI":"10.1210\/jc.2016-1087","article-title":"Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?","volume":"101","author":"Jost","year":"2016","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.jpeds.2010.02.025","article-title":"Infantile hypercalcemia and hypercalciuria: New insights into a vitamin d-dependent mechanism and response to ketoconazole treatment","volume":"157","author":"Nguyen","year":"2010","journal-title":"J. Pediatr."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1001\/archsurg.1993.01420190027004","article-title":"Tumoral Calcinosis. Controversies in the etiology and alternatives in the treatment","volume":"128","author":"Tezelman","year":"1993","journal-title":"Arch. Surg."},{"key":"ref_71","first-page":"249","article-title":"Tumoral calcinosis, a clinical report of eleven cases","volume":"59","author":"Noyez","year":"1993","journal-title":"Acta Orthop. Belg."},{"key":"ref_72","first-page":"574","article-title":"Tumoral calcinosis: Report of nine cases","volume":"77","author":"Kisembo","year":"2000","journal-title":"East Afr. Med. J."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/S0899-7071(02)00523-5","article-title":"Angiographic findings in tumoral calcinosis","volume":"27","author":"Neeman","year":"2003","journal-title":"Clin. Imaging"},{"key":"ref_74","first-page":"365","article-title":"Combined modality treatment for tumoral calcinosis","volume":"22","author":"Calloway","year":"1993","journal-title":"Orthop Rev."},{"key":"ref_75","unstructured":"(2024, April 01). Genome Aggregation Database. Available online: https:\/\/gnomad.broadinstitute.org\/about."}],"container-title":["Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-1729\/14\/5\/613\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:43:14Z","timestamp":1760107394000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-1729\/14\/5\/613"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,10]]},"references-count":75,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5]]}},"alternative-id":["life14050613"],"URL":"https:\/\/doi.org\/10.3390\/life14050613","relation":{},"ISSN":["2075-1729"],"issn-type":[{"type":"electronic","value":"2075-1729"}],"subject":[],"published":{"date-parts":[[2024,5,10]]}}}