Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Dewi Astuti, Mark R Morris, Wendy N Cooper, Raymond H J Staals, Naomi C Wake, Graham A Fews, Harmeet Gill, Dean Gentle, Salwati Shuib, Christopher J Ricketts, Trevor Cole, Anthonie J Van Essen, Richard A Van Lingen, Giovanni Neri, John M Opitz, Patrick Rump, Irene Stolte-Dijkstra, Ferenc Müller, Ger J M Pruijn, Farida LatifEamonn R Maher

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Biochemistry, Genetics and Molecular Biology