In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome
β Scribed by Debra E. Weese-Mayer; Elizabeth M. Berry-Kravis; Mary L. Marazita
- Book ID
- 116861210
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 202 KB
- Volume
- 149
- Category
- Article
- ISSN
- 1569-9048
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## Abstract Brain injury underlying the stateβrelated loss of ventilatory drive, autonomic, cognitive, and affective deficits in congenital central hypoventilation syndrome (CCHS) patients appears throughout the brain, as demonstrated by magnetic resonance (MR) T2 relaxometry and mean diffusivity s
## 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