Schwartz, Charles E <br/><br/>
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.  [electronic resource] 

 -  Journal of medical genetics  Jul 2007 
 - 472-7 p.  digital 
<br/><br/> Publication Type: Comparative Study; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2006.048637  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Humans<br/>Male<br/>Mediator Complex<br/>X-Linked Intellectual Disability--genetics<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Phenotype<br/>Receptors, Thyroid Hormone--genetics