Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

 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...

Full description

Bibliographic Details
Main Authors: Nabil Al Macki, Said Al Hanshi, Mohammed Al Ghafri, Ismail Al Rashdi
Format: Article
Language:English
Published: Oman Medical Specialty Board 2011-09-01
Series:Oman Medical Journal
Subjects:
Late onset central hypoventilation syndrome
Alveolar hypoventilation
Autonomic Nervous System
Hirschsprung Disease
Polyalanine repeat
PHOX2B
heterozygous
Online Access:http://journals.indexcopernicus.com/fulltxt.php?ICID=969369

Similar Items

Similar Items