Fernández, Raquel M <br/><br/>
Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.  [electronic resource] 

 -  American journal of medical genetics. Part A  Feb 2014 
 - 542-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36302  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Exons<br/>Gene Order<br/>Hirschsprung Disease<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Phenotype<br/>SOXE Transcription Factors--genetics<br/>Spain<br/>Waardenburg Syndrome--diagnosis