Dupuis, Nina <br/><br/>
A novel RAB33B mutation in Smith-McCort dysplasia.  [electronic resource] 

 -  Human mutation  Feb 2013 
 - 283-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22235  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Dwarfism--genetics<br/>Exome<br/>Genetic Diseases, X-Linked--genetics<br/>Genetic Heterogeneity<br/>Golgi Apparatus--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Intracellular Signaling Peptides and Proteins<br/>Male<br/>Mutation<br/>Osteochondrodysplasias--congenital<br/>Phenotype<br/>Proteins--genetics<br/>Sequence Analysis<br/>Young Adult<br/>rab GTP-Binding Proteins--genetics