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

L Southgate, RD Machado, KM Snape, M Primeau, D Dafou, DM Ruddy, PA Branney, M Fisher, GJ Lee, MA Simpson, Y He, TY Bradshaw, B Blaumeiser, WS Winship, W Reardon, Eamonn Maher, DR FitzPatrick, W Wuyts, M Zenker, N Lamarche-VaneRC Trembath

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    Biochemistry, Genetics and Molecular Biology

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    Immunology and Microbiology