Phenotype analysis impacts testing strategy in patients with Currarino syndrome von Cuturilo, G., Hodge, J.C., Runke, C.K., Thorland, E.C., Al-Owain, M.A., Ellison, J.W., Babovic-Vuksanovic, D.

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RLIM is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features von Palmer, EE, Caroll, R, Shaw, M, Kumar, R, Nawaz, U, Minoche, A, Leffler, M, Murray, L, Macintosh, R, Wright, D, Troedson, C, McKenzie, F, Townshend, S, Ward, M, Ravine, A, Runke, CK, Thorland, EC, Hummel, M, Foulds, N, Pichon, O, Isidor, B, Le Caignec, C, Bye, A, Sachdev, R, Kirk, EP, Cowley, MJ, Field, M, Gecz, J

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