White, Janson <br/><br/>
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.  [electronic resource] 

 -  American journal of human genetics  Apr 2015 
 - 612-22 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>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2015.02.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing--genetics<br/>Amino Acid Sequence<br/>Base Sequence<br/>Craniofacial Abnormalities--genetics<br/>DNA Primers--genetics<br/>Dishevelled Proteins<br/>Dwarfism--genetics<br/>Exome--genetics<br/>Exons--genetics<br/>Frameshift Mutation--genetics<br/>Gene Components<br/>Humans<br/>Limb Deformities, Congenital--genetics<br/>Molecular Sequence Data<br/>Phosphoproteins--genetics<br/>Sequence Analysis, DNA<br/>Urogenital Abnormalities--genetics