| 1 | DUP2QM, HOXD@, MMDK
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| A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
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| Cho TJ, Kim OH, Choi IH, Nishimura G, Superti-Furga A, Kim KS, Lee YJ, Park WY.
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| J Med Genet Med Genet. 2010 Jun 24. [Epub ahead of print]PMID: 20577005 2010
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| 2 | DEL2Q31, DUP2Q31, DUP2QM, HOXD@, MMDK
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| Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
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| Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S.
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| Eur J Hum Genet 18(12):1310-1314. Epub 2010 Jul 21.PMID: 20648051 2010
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| 3 | MMDK
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| Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.
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| Kantaputra PN.
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| Am J Med Genet 128A(1):1-5. No abstract available. 2004
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| 4 | MMDK
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| Kantaputra mesomelic dysplasia: a second reported family.
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| Shears DJ, Offiah A, Rutland P, Sirimanna T, Bitner-Glindzicz M, Hall C.
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| Am J Med Genet 128A(1):6-11. 2004
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| 5 | MMDK
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| Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation.
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| Kwee ML, Van De Sluijs JA, Van Vugt JM, Wijnaendts LC, Gille JJ.
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| Am J Med Genet 128A(4):404-9. 2004
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| 6 | MMDK
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| The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
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| Fujimoto M, et al.
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| J Hum Genet 43 : 32-36. 1998
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