Fernández, Raquel M <br/><br/>
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.  [electronic resource] 

 -  Human mutation  Nov 2003 
 - 412-5 p.  digital 
<br/><br/> Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.10273  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Female<br/>Genetic Predisposition to Disease<br/>Hirschsprung Disease--complications<br/>Humans<br/>Male<br/>Multiple Endocrine Neoplasia Type 2a--complications<br/>Pedigree<br/>Phenotype<br/>Point Mutation<br/>Proto-Oncogene Proteins--genetics<br/>Proto-Oncogene Proteins c-ret<br/>Receptor Protein-Tyrosine Kinases--genetics