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Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system develo...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Group
2007
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2094255/ https://ncbi.nlm.nih.gov/pubmed/17909190 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thx.2006.068908 |
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