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Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene
This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and m...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
OMJ
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3215446/ https://ncbi.nlm.nih.gov/pubmed/22125732 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5001/omj.2011.87 |
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