Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

H. Vega, A. H. Trainer, M. Gordillo, M. Crosier, H. Kayserili, F. Skovby, M. L Giovannucci Uzielli, R. E. Schnur, S. Manouvrier, E. Blair, J. A. Hurst, F. Forzano, M. Meins, K. O J Simola, A. Raas-Rothschild, R. C M Hennekam, E. Wang Jabs

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