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 management of cases of unexplained hypoventilation.

Member of

Journal articles

Resource URL

https://hdl.handle.net/20.500.12408/8690

Citation

Al-Rashdi, Ismail, Al-Ghafri, Mohammed, Al-Hanshi, Said, & Al-Macki, Nabil (2011). Late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. Oman Medical Journal, 26 (5), 356-358.

Author's Work

Journal articles

Staff perception of relative importance of quality dimensions for patients at tertiary public services in Oman.

Al-Rashdi, Ismail.

Oman Medical Specialty Board.

2012-09

Same Subject

Journal articles

Effects of pranayam breathing on respiratory pressures and sympathovagal balance of patients with chronic airflow limitation and in control subjects.

Jaju, Deepali S.

College of Medicine, Sultan Qaboos University.

2011-05