Tran Mau-Them, Frederic <br/><br/>
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.  [electronic resource] 

 -  European journal of human genetics : EJHG  Feb 2014 
 - 289-92 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2013.113  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Adult<br/>Child, Preschool<br/>Codon, Nonsense<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Guanine Nucleotide Exchange Factors--genetics<br/>Humans<br/>Intellectual Disability--classification<br/>Male<br/>Phenotype