Peron, Angela <br/><br/>
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.  [electronic resource] 

 -  American journal of medical genetics. Part A  Sep 2013 
 - 2316-20 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36116  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Nonsense<br/>Humans<br/>Infant<br/>Male<br/>X-Linked Intellectual Disability--diagnosis<br/>Pedigree<br/>Phenotype<br/>Spermine Synthase--genetics