Shashi, Vandana <br/><br/>
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.  [electronic resource] 

 -  American journal of human genetics  Oct 2016 
 - 991-999 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2016.08.017  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Developmental Disabilities--genetics<br/>Exome--genetics<br/>Eyebrows--abnormalities<br/>Humans<br/>Hypertelorism--genetics<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Megalencephaly--genetics<br/>Muscle Hypotonia--genetics<br/>Phenotype<br/>RNA, Messenger--metabolism<br/>Repressor Proteins--genetics<br/>Syndrome