Boutry-Kryza, Nadia <br/><br/>
An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.  [electronic resource] 

 -  American journal of medical genetics. Part A  Feb 2012 
 - 400-5 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.34222  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Body Dysmorphic Disorders--diagnosis<br/>Child<br/>Chromosome Breakpoints<br/>Chromosome Deletion<br/>Chromosome Disorders--diagnosis<br/>Chromosomes, Human, Pair 17--genetics<br/>Comparative Genomic Hybridization<br/>Haploinsufficiency--genetics<br/>Hearing Loss--diagnosis<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Mediator Complex--genetics