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

Research output: Contribution to journal › Article › peer-review

59 Scopus citations

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Biochemistry, Genetics and Molecular Biology