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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
  1. Correspondence to Dr H Vega, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of City University of New York, New York, NY 10029, USA; hhvegaf{at}unal.edu.co
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Vega H, Trainer AH, Gordillo M, et al
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

Publication history

  • Received April 1, 2009
  • Revised June 6, 2009
  • Accepted June 12, 2009
  • First published July 1, 2009.
Online issue publication 
January 11, 2010

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