Abstract
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 management of cases of unexplained hypoventilation.
Keywords
Publication details
- DOI
- 10.5001/omj.2011.87
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Al Rashdi, I., Al Ghafri, M., Al Hanshi, S., & Al Macki, N. (2011). Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene. Oman Medical Journal. https://doi.org/10.5001/omj.2011.87
MLA 9
Al Rashdi, Ismail, et al. "Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene." Oman Medical Journal, 2011. https://doi.org/10.5001/omj.2011.87.
Chicago (author–date)
Al Rashdi, Ismail, Mohammed Al Ghafri, Said Al Hanshi, and Nabil Al Macki. 2011. "Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene." Oman Medical Journal. https://doi.org/10.5001/omj.2011.87.
Harvard
Al Rashdi, I., Al Ghafri, M., Al Hanshi, S. and Al Macki, N. (2011) 'Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene', Oman Medical Journal. doi:10.5001/omj.2011.87.
Vancouver
Al Rashdi I, Al Ghafri M, Al Hanshi S, Al Macki N. Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene. Oman Medical Journal. 2011. doi:10.5001/omj.2011.87
IEEE
I. Al Rashdi, M. Al Ghafri, S. Al Hanshi, and N. Al Macki, "Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene," Oman Medical Journal, 2011, doi: 10.5001/omj.2011.87.