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Gallione, C.J., Repetto, G.M., Legius, E., Rustgi, A.K., Schelley, S.L., Tejpar, S., Mitchell, G., Drouin, E., Westermann, C.J. and Marchuk, D.A.(2004) A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet, 363, 852-859. doi:10.1016/S0140-6736(04)15732-2

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