De Palma, Armando <br/><br/>
Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.  [electronic resource] 

 -  American journal of medical genetics. Part A  Sep 2017 
 - 2511-2516 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.38340  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>DNA Damage--genetics<br/>DNA Repair--genetics<br/>DNA-Directed DNA Polymerase--genetics<br/>Fibroblasts--metabolism<br/>Humans<br/>Male<br/>Mutation<br/>Skin Neoplasms--genetics<br/>Sunburn--genetics<br/>Sunlight<br/>Xeroderma Pigmentosum--genetics