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Endothelin–3 frameshift mutation in congenital central hypoventilation syndrome

✍ Scribed by Bolk, Stacey; Angrist, Misha; Xie, Jian; Yanagisawa, Masashi; Silvestri, Jean M.; Weese-Mayer, Debra E.; Chakravarti, Aravinda


Book ID
109916719
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
267 KB
Volume
13
Category
Article
ISSN
1061-4036

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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