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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Barratt, S, Kendrick, A H, Buchanan, F, Whittle, A T
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2007
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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