Tauziède-Espariat, Arnault <br/><br/>
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor.  [electronic resource] 

 -  European journal of human genetics : EJHG  10 2017 
 - 1170-1172 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2017.115  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cells, Cultured<br/>Germ-Line Mutation<br/>Humans<br/>Infant<br/>Introns<br/>Male<br/>Rhabdoid Tumor--diagnosis<br/>SMARCB1 Protein--genetics<br/>Teratoma--diagnosis