Phenotypic variability in 49 cases of <i>ESCO2</i> mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with <i>ESCO2</i> expression and establishes the clinical criteria for Roberts syndrome
Horacio Astudillo‐de la Vega(City University of New York), Ethylin Wang Jabs(Johns Hopkins University)
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