PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome

• Κύριοι συγγραφείς: Tzu-Chiang Wang (Συγγραφέας), Yi-Ning Su (Συγγραφέας), Ming-Chi Lai (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Elsevier, 2014-02-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

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...