Wang, H J <br/><br/>
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.  [electronic resource] 

 -  Clinical and experimental dermatology  Mar 2014 
 - 158-61 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1365-2230 
<br/><br/><label>Standard No.: </label>10.1111/ced.12248  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alopecia--genetics<br/>Facial Dermatoses--genetics<br/>Humans<br/>Ichthyosis--genetics<br/>Introns--genetics<br/>Keratosis--genetics<br/>Male<br/>Metalloendopeptidases--genetics<br/>Mutation<br/>Nails, Malformed--genetics<br/>Photophobia--genetics<br/>RNA Splice Sites--genetics<br/>Young Adult