Jouary, Thomas <br/><br/>
Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.  [electronic resource] 

 -  The Journal of investigative dermatology  Feb 2008 
 - 322-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1523-1747 
<br/><br/><label>Standard No.: </label>10.1038/sj.jid.5700987  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Cathepsin C--genetics<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Family Health<br/>Female<br/>Gene Deletion<br/>Gene Dosage<br/>Genetic Testing<br/>Humans<br/>Male<br/>Papillon-Lefevre Disease--diagnosis