A novel homozygous MMP2 mutation in a patient with Torg–Winchester syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg2010102.pdf
Reference15 articles.
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2. 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, 329–333 (2007).
3. 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, 95–100 (2007).
4. Eisenstein, D. M., Poznanski, A. K. & Pachman, L. M. Torg osteolysis syndrome. Am J Med Genet 80, 207–212 (1998).
5. 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, 565–572 (2009).
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