Woods, Susan A <br/><br/>
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jan 2014 
 - 251-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Review 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36237  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Autopsy<br/>De Lange Syndrome--diagnosis<br/>Diagnosis, Differential<br/>E1A-Associated p300 Protein--genetics<br/>Exome<br/>Facies<br/>Fatal Outcome<br/>Frameshift Mutation<br/>Heterozygote<br/>Humans<br/>Infant<br/>Male<br/>Phenotype<br/>Rubinstein-Taybi Syndrome--diagnosis