Becerra-Solano, L E <br/><br/>
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2009 
 - 328-35 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.32641  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Chromosomes, Human, X<br/>DNA Mutational Analysis<br/>Exons<br/>Genes, X-Linked<br/>Genetic Linkage<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Marfan Syndrome--genetics<br/>X-Linked Intellectual Disability--genetics<br/>Mutation, Missense<br/>Osteoporosis--genetics<br/>Pedigree<br/>Scoliosis--genetics<br/>Siblings<br/>Spermine Synthase--genetics<br/>Young Adult