Congenital Central Hypoventilation Syndrome withPHOX2BGene Mutation
β 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
## 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