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HLXB9 homeobox gene and caudal regression syndrome.
Merello E, De Marco P, Mascelli S, Raso A, Calevo MG, Torre M, Cama A, Lerone M, Martucciello G, Capra V. Merello E, et al. Among authors: mascelli s. Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):205-9. doi: 10.1002/bdra.20234. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16498628
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.
De Marco P, Raso A, Beri S, Gimelli S, Merello E, Mascelli S, Baldi M, Baffico AM, Pavanello M, Cama A, Capra V, Giorda R, Gimelli G. De Marco P, et al. Among authors: mascelli s. Eur J Med Genet. 2011 Sep-Oct;54(5):e478-83. doi: 10.1016/j.ejmg.2011.05.007. Epub 2011 Jun 25. Eur J Med Genet. 2011. PMID: 21708297
37 results