{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T01:07:36Z","timestamp":1793322456214,"version":"4.5.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2010,8,19]],"date-time":"2010-08-19T00:00:00Z","timestamp":1282176000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2010,11]]},"DOI":"10.1038\/jhg.2010.102","type":"journal-article","created":{"date-parts":[[2010,8,19]],"date-time":"2010-08-19T06:13:07Z","timestamp":1282198387000},"page":"764-766","source":"Crossref","is-referenced-by-count":15,"title":["A novel homozygous MMP2 mutation in a patient with Torg\u2013Winchester syndrome"],"prefix":"10.1038","volume":"55","author":[{"given":"Seon-Yong","family":"Jeong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo-Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyon J","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong-A","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ok-Hwa","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,8,19]]},"reference":[{"key":"BFjhg2010102_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajmg.a.31483","volume":"143","author":"A Superti-Furga","year":"2007","unstructured":"Superti-Furga, A. & Unger, S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 143, 1\u201318 (2007).","journal-title":"Am J Med Genet A"},{"key":"BFjhg2010102_CR2","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1359\/jbmr.061013","volume":"22","author":"A Zankl","year":"2007","unstructured":"Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y. et al. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res 22, 329\u2013333 (2007).","journal-title":"J Bone Miner Res"},{"key":"BFjhg2010102_CR3","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1097\/MCD.0b013e3280147187","volume":"16","author":"SR Phadke","year":"2007","unstructured":"Phadke, S. R., Ramirez, M., Difeo, A., Martignetti, J. A. & Girisha, K. M. Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. Clin Dysmorphol 16, 95\u2013100 (2007).","journal-title":"Clin Dysmorphol"},{"key":"BFjhg2010102_CR4","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<207::AID-AJMG5>3.0.CO;2-A","volume":"80","author":"DM Eisenstein","year":"1998","unstructured":"Eisenstein, D. M., Poznanski, A. K. & Pachman, L. M. Torg osteolysis syndrome. Am J Med Genet 80, 207\u2013212 (1998).","journal-title":"Am J Med Genet"},{"key":"BFjhg2010102_CR5","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/ejhg.2008.204","volume":"17","author":"B Tuysuz","year":"2009","unstructured":"Tuysuz, B., Mosig, R., Altun, G., Sancak, S. & Glucksman, M. J. & Martignetti J.A. A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects. Eur J Hum Genet 17, 565\u2013572 (2009).","journal-title":"Eur J Hum Genet"},{"key":"BFjhg2010102_CR6","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/1096-8628(20000703)93:1<11::AID-AJMG3>3.0.CO;2-3","volume":"93","author":"A Al Aqeel","year":"2000","unstructured":"Al Aqeel, A., Al Sewairi, W., Edress, B., Gorlin, R. J., Desnick, R. J. & Martignetti, J. A. Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am J Med Genet 93, 11\u201318 (2000).","journal-title":"Am J Med Genet"},{"key":"BFjhg2010102_CR7","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1136\/jmg.26.12.772","volume":"26","author":"RM Winter","year":"1989","unstructured":"Winter, R. M. Winchester's syndrome. J Med Genet 26, 772\u2013775 (1989).","journal-title":"J Med Genet"},{"key":"BFjhg2010102_CR8","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1038\/90100","volume":"28","author":"JA Martignetti","year":"2001","unstructured":"Martignetti, J. A., Aqeel, A. A., Sewairi, W. A., Boumah, C. E., Kambouris, M., Mayouf, S. A. et al. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet 28, 261\u2013265 (2001).","journal-title":"Nat Genet"},{"key":"BFjhg2010102_CR9","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1111\/j.1399-0004.2004.00402.x","volume":"67","author":"A Zankl","year":"2005","unstructured":"Zankl, A., Bonafe, L., Calcaterra, V., Di Rocco, M. & Superti-Furga, A. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet 67, 261\u2013266 (2005).","journal-title":"Clin Genet"},{"key":"BFjhg2010102_CR10","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1111\/j.1399-0004.2006.00584.x","volume":"69","author":"C Rouzier","year":"2006","unstructured":"Rouzier, C., Vanatka, R., Bannwarth, S., Philip, N., Coussement, A., Paquis-Flucklinger, V. et al. A novel homozygous MMP2 mutation in a family with Winchester syndrome. Clin Genet 69, 271\u2013276 (2006).","journal-title":"Clin Genet"},{"key":"BFjhg2010102_CR11","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1007\/s00431-009-1028-7","volume":"169","author":"F Gok","year":"2010","unstructured":"Gok, F., Crettol, L. M., Alanay, Y., Hacihamdioglu, B., Kocaoglu, M., Bonafe, L. et al. Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene. Eur J Pediatr 169, 363\u2013367 (2010).","journal-title":"Eur J Pediatr"},{"key":"BFjhg2010102_CR12","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1002\/1096-9896(2000)9999:9999<::AID-PATH670>3.0.CO;2-1","volume":"192","author":"C Badier-Commander","year":"2000","unstructured":"Badier-Commander, C., Verbeuren, T., Lebard, C., Michel, J. B. & Jacob, M. P. Increased TIMP\/MMP ratio in varicose veins: a possible explanation for extracellular matrix accumulation. J Pathol 192, 105\u2013112 (2000).","journal-title":"J Pathol"},{"key":"BFjhg2010102_CR13","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1385\/MB:25:3:241","volume":"25","author":"K Maskos","year":"2003","unstructured":"Maskos, K. & Bode, W. Structural basis of matrix metalloproteinases and tissue inhibitors of metalloproteinases. Mol Biotechnol 25, 241\u2013266 (2003).","journal-title":"Mol Biotechnol"},{"key":"BFjhg2010102_CR14","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1016\/j.ajhg.2009.06.014","volume":"85","author":"E Lausch","year":"2009","unstructured":"Lausch, E., Keppler, R., Hilbert, K., Cormier-Daire, V., Nikkel, S., Nishimura, G. et al. Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet 85, 168\u2013178 (2009).","journal-title":"Am J Hum Genet"},{"key":"BFjhg2010102_CR15","doi-asserted-by":"publisher","first-page":"2832","DOI":"10.1172\/JCI22900","volume":"115","author":"AM Kennedy","year":"2005","unstructured":"Kennedy, A. M., Inada, M., Krane, S. M., Christie, P. T., Harding, B., Lopez-Otin, C. et al. MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). J Clin Invest 115, 2832\u20132842 (2005).","journal-title":"J Clin Invest"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg2010102.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2010102","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2010102.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:26:34Z","timestamp":1684430794000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg2010102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,19]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2010,11]]}},"alternative-id":["BFjhg2010102"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2010.102","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,19]]}}}