DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
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.
J Med Genet 2010;
47 (01) 30-37
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