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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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Al Rashdi, Ismail, Al Ghafri, Mohammed, Al Hanshi, Said, Al Macki, Nabil
Format: Artigo
Sprache:Inglês
Veröffentlicht: OMJ 2011
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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