Beunders, Gea <br/><br/>
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  Jun 2015 
 - 803-7 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2014.173  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cytoskeletal Proteins<br/>Exons<br/>Frameshift Mutation<br/>Gene Deletion<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Male<br/>Microcephaly--genetics<br/>Phenotype<br/>Polymorphism, Genetic<br/>Proteins--genetics<br/>Syndrome<br/>Transcription Factors<br/>Young Adult