Smyk, Marta <br/><br/>
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.  [electronic resource] 

 -  American journal of medical genetics. Part A  Aug 2015 
 - 1842-50 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37057  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Bone Diseases, Metabolic--genetics<br/>Comparative Genomic Hybridization<br/>Female<br/>Fractures, Bone--genetics<br/>Humans<br/>Infant, Newborn<br/>MAP Kinase Kinase 6--genetics<br/>Pierre Robin Syndrome<br/>Pregnancy<br/>SOX9 Transcription Factor--genetics<br/>Sequence Deletion<br/>Young Adult