Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 1, 2009, Pages 192-195

  Repetto, Gabriela M ^a,b   Corrales, Raul J ^b   Abara, Selim G ^b   Zhou, Lili ^c   Berry Kravis, Elizabeth M ^c   Rand, Casey M ^c   Weese Mayer, Debra E ^d  

^a UNIVERSIDAD DEL DESARROLLO   (Chile)

^b UNIVERSIDAD DEL DESARROLLO   (Chile)

^c RUSH UNIVERSITY MEDICAL CENTER   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Anesthetics; Central sleep apnea; Congenital central hypoventilation syndrome; PHOX2B gene

Indexed keywords

BENZODIAZEPINE; FENTANYL; SEVOFLURANE;

ADENOIDECTOMY; ARTICLE; ASSISTED VENTILATION; BRONCHOSCOPY; CASE REPORT; CHILD; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPOVENTILATION; LATER ONSET CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; LUNG ALVEOLUS HYPOVENTILATION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PAIRED LIKE HOMEOBOX GENE 2B; PHENOTYPE; POLYSOMNOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEDATION; SLEEP APNEA SYNDROME; TONIC CLONIC SEIZURE; TONSILLECTOMY;

AGE OF ONSET; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HOMEODOMAIN PROTEINS; HUMANS; HYPOVENTILATION; MALE; PEPTIDES; SLEEP APNEA, CENTRAL; TIME FACTORS; TRANSCRIPTION FACTORS;

EID: 57449115132     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.01039.x     Document Type: Article

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