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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Detalles Bibliográficos
Main Authors: Al Rashdi, Ismail, Al Ghafri, Mohammed, Al Hanshi, Said, Al Macki, Nabil
Formato: Artigo
Idioma:Inglês
Publicado: OMJ 2011
Assuntos:
Case Report
Acceso en liña: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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