Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. [electronic resource]
Producer: 20070222Description: e9-11 p. digitalISSN:- 1531-5037
- 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
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Publication Type: Case Reports; Journal Article
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