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...

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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

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http://journals.indexcopernicus.com/fulltxt.php?ICID=969369

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