| 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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