Schaefer, E <br/><br/>
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.  [electronic resource] 

 -  Molecular syndromology  Sep 2011 
 - 273-281 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1661-8769 
<br/><br/><label>Standard No.: </label>10.1159/000331268  doi