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References
Benko, S. et al. Nat. Genet. 41, 359–364 (2009).
Wagner, T. et al. Cell 79, 1111–1120 (1994).
Akiyama, H., Chaboissier, M.C., Martin, J.F., Schedl, A. & de Crombrugghe, B. Genes Dev. 16, 2813–2828 (2002).
Blaydon, D.C. et al. Nat. Genet. 38, 1245–1247 (2006).
Topol, L., Chen, W., Song, H., Day, T.F. & Yang, Y. J. Biol. Chem. 284, 3323–3333 (2009).
Acknowledgements
This work was supported by a grant from the Deutsche Forschungsgemeinschaft to E.K. and S.M. and by an FFM grant of the Universitätsklinikum Hamburg Eppendorf to I.K.
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Kurth, I., Klopocki, E., Stricker, S. et al. Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia. Nat Genet 41, 862–863 (2009). https://doi.org/10.1038/ng0809-862
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DOI: https://doi.org/10.1038/ng0809-862
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