Vega, H <br/><br/>
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.  [electronic resource] 

 -  Journal of medical genetics  Jan 2010 
 - 30-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2009.068395  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Acetyltransferases--genetics<br/>Chromosomal Proteins, Non-Histone--genetics<br/>Codon--genetics<br/>Craniofacial Abnormalities--genetics<br/>Developmental Disabilities--genetics<br/>Female<br/>Gene Expression<br/>Genetic Variation<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Male<br/>Mutation, Missense<br/>Phenotype<br/>Protein Structure, Tertiary--genetics<br/>Sequence Deletion<br/>Syndrome