The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Fady M. Mikhail, Rachel D. Burnside, Brooke Rush, Jennifer Ibrahim, Robin Godshalk, S. Lane Rutledge, Nathaniel H. Robin, Maria D. Descartes, Andrew J. Carroll
2013 Genetics in Medicine  
doi:10.1038/gim.2013.79 pmid:23765049 fatcat:hcjvdxpuhbgmxmln7tjr5bikp4