Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

Laura Southgate, Rajiv D. Machado, Katie M. Snape, Martin Primeau, Dimitra Dafou, Deborah M. Ruddy, Peter A. Branney, Malcolm Fisher, Grace J. Lee, Michael A. Simpson, Yi He, Teisha Y. Bradshaw, Bettina Blaumeiser, William S. Winship, Willie Reardon, Eamonn R. Maher, David R. FitzPatrick, Wim Wuyts, Martin Zenker, Nathalie Lamarche-VaneRichard C. Trembath

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Biochemistry, Genetics and Molecular Biology