Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.

Ou-Yang, Mei-Chen

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

Publication Type: Case Reports; Journal Article

1531-5037

10.1016/j.jpedsurg.2006.10.022 doi


Disease Progression
Fatal Outcome
Hirschsprung Disease--complications
Homeodomain Proteins--genetics
Humans
Hypoventilation--complications
Infant, Newborn
Male
Multiple Organ Failure--diagnosis
Mutation
Mutation, Missense
Rare Diseases
Risk Assessment
Syndrome
Transcription Factors--genetics