Feberwee, H E <br/><br/>
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.  [electronic resource] 

 -  Clinical genetics  Feb 2014 
 - 194-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12125  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cataract--congenital<br/>Codon, Nonsense--genetics<br/>Female<br/>Heart Septal Defects--genetics<br/>Humans<br/>Infant<br/>Microphthalmos--genetics<br/>Mutation, Missense--genetics<br/>Proto-Oncogene Proteins--genetics<br/>Repressor Proteins--genetics<br/>Young Adult