Nambot, Sophie <br/><br/>
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.  [electronic resource] 

 -  European journal of human genetics : EJHG  06 2016 
 - 830-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2015.202  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 9--genetics<br/>Craniofacial Abnormalities--diagnosis<br/>Endoglin--genetics<br/>Epilepsy--diagnosis<br/>Female<br/>Haploinsufficiency<br/>Humans<br/>Intellectual Disability--diagnosis<br/>LIM-Homeodomain Proteins--genetics<br/>Male<br/>Munc18 Proteins--genetics<br/>Phenotype<br/>Syndrome<br/>Transcription Factors--genetics