Takeichi, Takuya <br/><br/>
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.  [electronic resource] 

 -  The Journal of investigative dermatology  11 2017 
 - 2344-2353 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1523-1747 
<br/><br/><label>Standard No.: </label>10.1016/j.jid.2017.06.028  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alcohol Oxidoreductases--genetics<br/>Alleles<br/>Biopsy, Needle<br/>Ceramides--biosynthesis<br/>Child<br/>Genetic Predisposition to Disease<br/>Humans<br/>Immunohistochemistry<br/>In Vitro Techniques<br/>Keratoderma, Palmoplantar--complications<br/>Male<br/>Mutation<br/>Pedigree<br/>Prognosis<br/>Sampling Studies<br/>Severity of Illness Index<br/>Thrombocytopenia--complications<br/>Young Adult