PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome

PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is characterized by defective automatic regulation of breathing, mostly during sleep. The diagnostic criteria of CCHS include persistent sleep hypoventilation without primary cardiac, pulmonary disease or neuromuscular dysfunction, and no arousal re...

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Bibliographic Details
Main Authors: Tzu-Chiang Wang, Yi-Ning Su, Ming-Chi Lai
Format: Article
Language:English
Published: Elsevier 2014-02-01
Series:Pediatrics and Neonatology
Subjects:
congenital central hypoventilation syndrome
Hirschsprung disease
Ondine's curse
sleep hypoventilation
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957212002124

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http://www.sciencedirect.com/science/article/pii/S1875957212002124

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