| 1 | HYD1, PAX9
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| A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.
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| Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI.
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| Clin Genet 80(3):265-72. doi: 10.1111/j.1399-0004.2010.01529.x. Epub 2010 Sep 8.
2011
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| 2 | HYD1, MSX1, PAX9
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| Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.
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| Wang Y, Groppe JC, Wu J, Ogawa T, Mues G, D'Souza RN, Kapadia H.
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| Hum Mol Genet 18(15):2863-74. Epub 2009 May 9.
2009
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| 3 | HYD1, PAX9, OLD
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| Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia.
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| Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI.
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| Am J Med Genet 118A(1):35-42. 2003
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| 4 | PAX9, HYD1
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| Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
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| Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI.
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| Hum Genet 110(4):371-6. Epub 2002 Mar 14. 2002
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