Risheg, Hiba <br/><br/>
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.  [electronic resource] 

 -  Nature genetics  Apr 2007 
 - 451-3 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1061-4036 
<br/><br/><label>Standard No.: </label>10.1038/ng1992  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution--genetics<br/>Arginine--genetics<br/>Family<br/>Female<br/>Genetic Diseases, X-Linked--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Mediator Complex<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Pedigree<br/>Receptors, Thyroid Hormone--genetics<br/>Syndrome<br/>Tryptophan--genetics