Verheij, Johanna B G M <br/><br/>
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.  [electronic resource] 

 -  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society  Jan 2006 
 - 11-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1090-3798 
<br/><br/><label>Standard No.: </label>10.1016/j.ejpn.2005.10.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--pathology<br/>DNA-Binding Proteins--genetics<br/>Demyelinating Diseases--diagnostic imaging<br/>Female<br/>Growth--physiology<br/>High Mobility Group Proteins--genetics<br/>Hirschsprung Disease--diagnostic imaging<br/>Humans<br/>Infant, Newborn<br/>Magnetic Resonance Imaging<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Neural Conduction--physiology<br/>Neurologic Examination<br/>Radiography<br/>SOXE Transcription Factors<br/>Syndrome<br/>Transcription Factors--genetics<br/>Waardenburg Syndrome--diagnostic imaging