Grotto, Sarah <br/><br/>
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.  [electronic resource] 

 -  European journal of medical genetics  Apr 2014 
 - 200-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2013.12.012  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adult<br/>Base Sequence<br/>Chromosomes, Human, X<br/>Codon, Nonsense<br/>DNA Mutational Analysis<br/>Genetic Association Studies<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Megalencephaly--genetics<br/>Pedigree<br/>Transcription Factors--genetics<br/>Young Adult