Tunovic, Sanjin <br/><br/>
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jul 2014 
 - 1744-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36450  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Bone Diseases, Developmental--diagnosis<br/>Brain--pathology<br/>Face--abnormalities<br/>Facies<br/>Hematologic Diseases--diagnosis<br/>Histone Demethylases--genetics<br/>Humans<br/>Infant<br/>Intellectual Disability--diagnosis<br/>Male<br/>Mutation<br/>Phenotype<br/>Repressor Proteins--genetics<br/>Tooth Abnormalities--diagnosis<br/>Vestibular Diseases--diagnosis