PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in a Chinese Family

Article ID	Journal	Published Year	Pages	File Type
2902276	Chest	2009	8 Pages	PDF

Abstract

Transmission of late-onset CCHS is autosomal-dominant. Genetic screening of family members of CCHS probands allows for early diagnosis and treatment.

Keywords

PetCO2 paired-like homeobox 2B BPAP PHOX2B CCHS PFT SF-36 SpO2 Sleep apnea pulse oximetric saturation emergency department Pulmonary function test minute ventilation Congenital central hypoventilation syndrome Abg bilevel positive airway pressure Medical Outcomes Study 36-Item Short Form Hospital Anxiety and Depression Scale HADS PSG Polysomnography hypoventilation Arterial blood gas

Related Topics

Health Sciences Medicine and Dentistry Cardiology and Cardiovascular Medicine

PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in a Chinese Family

Authors

Peilin MD, Yi-Ning MD, PhD, Chong-Jen MD, PhD, Pan-Chyr MD, PhD, FCCP, Huey-Dong MD, FCCP,