Ou-Yang, Mei-Chen <br/><br/>
Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.  [electronic resource] 

 -  Journal of pediatric surgery  Feb 2007 
 - e9-11 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1531-5037 
<br/><br/><label>Standard No.: </label>10.1016/j.jpedsurg.2006.10.022  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Disease Progression<br/>Fatal Outcome<br/>Hirschsprung Disease--complications<br/>Homeodomain Proteins--genetics<br/>Humans<br/>Hypoventilation--complications<br/>Infant, Newborn<br/>Male<br/>Multiple Organ Failure--diagnosis<br/>Mutation<br/>Mutation, Missense<br/>Rare Diseases<br/>Risk Assessment<br/>Syndrome<br/>Transcription Factors--genetics