Late-onset central hypoventilation syndrome: A family genetic study

European Respiratory Journal

Volumn 29, Issue 2, 2007, Pages 312-316

  Doherty, L S ^a   Kiely, J L ^a   Deegan, P C ^a   Nolan, G ^a   McCabe, S ^b   Green, A J ^b,c   Ennis, S ^b,c   McNicholas, Walter T ^a,b  

^a ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Central hypoventilation; Congenital; Ondine's curse; PHOX2B gene; Sleep

Indexed keywords

BICARBONATE; CARBON DIOXIDE; OXYGEN;

ADULT; ANAMNESIS; ARTERIAL CARBON DIOXIDE TENSION; ARTERIAL OXYGEN TENSION; ARTICLE; ARTIFICIAL VENTILATION; BICARBONATE BLOOD LEVEL; BLOOD GAS ANALYSIS; BLOOD SAMPLING; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; FAMILY STUDY; FEMALE; FOLLOW UP; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GENE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; HUMAN; HYPERCAPNIA; HYPOXEMIA; LUNG FUNCTION TEST; MALE; OXYGEN SATURATION; OXYGEN THERAPY; PHOX2B GENE; POLYSOMNOGRAPHY; PRIORITY JOURNAL; REM SLEEP; SCORING SYSTEM;

ADOLESCENT; ADULT; BRAIN STEM; CHILD; DISEASE TRANSMISSION, VERTICAL; GENES, DOMINANT; HOMEODOMAIN PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PEPTIDES; SLEEP APNEA, CENTRAL; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33846933516     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.00001606     Document Type: Article

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