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Congenital Central Hypoventilation Syndrome withPHOX2BGene Mutation

✍ Scribed by Lokesh Lingappa, Nalini Kanth Panigrahi, Dinesh Kumar Chirla, Sarah Burton-Jones, Margaret M Williams


Book ID
118822927
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
178 KB
Volume
79
Category
Article
ISSN
0019-5456

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## Abstract Congenital central hypoventilation syndrome (CCHS) is a rare syndrome characterized by failure of autonomic respiratory control, often presenting with other dysfunctions of the autonomic nervous system. Segregation analysis suggested a complex model of inheritance with a major locus inv

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## Congenital central hypoventilation syndrome (CCHS; Ondine's Curse) is traditionally defined as the failure of automatic control of breathing. The term ''Ondine's curse'' was initially coined by Severinghaus and Mitchell in 1962 to describe a syndrome manifested in three adult patients after hi