Koolen, David A <br/><br/>
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.  [electronic resource] 

 -  Nature genetics  Apr 2012 
 - 639-41 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.2262  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Aged<br/>Aging<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 17<br/>Facies<br/>Female<br/>Haploinsufficiency<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Middle Aged<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Smith-Magenis Syndrome<br/>Syndrome