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Molecular analysis of congenital central hypoventilation syndrome

โœ Scribed by Ayako Sasaki; Masayo Kanai; Kazuki Kijima; Kazuhiro Akaba; Motoya Hashimoto; Hisaya Hasegawa; Shinsuke Otaki; Takenobu Koizumi; Satoshi Kusuda; Youhei Ogawa; Keiji Tuchiya; Wakako Yamamoto; Tomohiko Nakamura; Kiyoshi Hayasaka


Book ID
106133906
Publisher
Springer
Year
2003
Tongue
English
Weight
125 KB
Volume
114
Category
Article
ISSN
0340-6717

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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

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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