Truong, Hoa T <br/><br/>
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.  [electronic resource] 

 -  BMC medical genetics  Oct 2010 
 - 142 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/1471-2350-11-142  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Chromosomes, Human, Pair 17<br/>Exons<br/>Female<br/>Frameshift Mutation<br/>Hearing Loss--etiology<br/>Humans<br/>Male<br/>Phenotype<br/>Self-Injurious Behavior--etiology<br/>Sequence Analysis, DNA<br/>Trans-Activators<br/>Transcription Factors--genetics