Bekircan-Kurt, Can Ebru <br/><br/>
A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.  [electronic resource] 

 -  The Turkish journal of pediatrics  2016 
 - 97-100 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2791-6421 
<br/><br/><label>Standard No.: </label>10.24953/turkjped.2016.01.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>DNA-Binding Proteins--genetics<br/>Electroencephalography<br/>Epilepsy--drug therapy<br/>Face--abnormalities<br/>Hematologic Diseases--genetics<br/>Heterozygote<br/>Humans<br/>Male<br/>Mutation<br/>Neoplasm Proteins--genetics<br/>Vestibular Diseases--genetics