Nizon, Mathilde <br/><br/>
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  12 2019 
 - 2713-2722 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1530-0366 
<br/><br/><label>Standard No.: </label>10.1038/s41436-019-0557-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Autism Spectrum Disorder--genetics<br/>Child<br/>Child, Preschool<br/>Developmental Disabilities--genetics<br/>Exome--genetics<br/>Female<br/>Frameshift Mutation--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Mediator Complex--genetics<br/>Mutation--genetics<br/>Sequence Deletion--genetics<br/>Transcription Factors--genetics<br/>Young Adult