title: Late-onset, insidious course and invasive treatment of congenital central hypoventilation syndrome in a case with the Phox2B mutation: case report.
authors.affiliation: Disciplina de Medicina e Biologia do Sono, Departamento de Psicobiologia, Universidade Federal de São Paulo, Rua Napoleão de Barros, 925, 04024-002, São Paulo, São Paulo, Brazil. lia@psicobio.epm.br
authors.forename: Lia Rita Azeredo
authors.initials: LR
authors.lastname: Bittencourt
authors.forename: Mario
authors.initials: M
authors.lastname: Pedrazzoli
authors.forename: Fabiana
authors.initials: F
authors.lastname: Yagihara
authors.forename: Gabriela Pontes
authors.initials: GP
authors.lastname: Luz
authors.forename: Silvério
authors.initials: S
authors.lastname: Garbuio
authors.forename: Gustavo Antonio
authors.initials: GA
authors.lastname: Moreira
authors.forename: João Aléssio J
authors.initials: JA
authors.lastname: Perfeito
authors.forename: Sergio
authors.initials: S
authors.lastname: Tufik
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D045422:Continuous Positive Airway Pressure; D004252:DNA Mutational Analysis; D042622:DNA Repeat Expansion / Q000235:genetics*; D005500:Follow-Up Studies; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010349:Patient Compliance; D010641:Phenotype; D017286:Polysomnography; D012008:Recurrence; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D014140:Tracheotomy; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors
references.citation: Am Rev Respir Dis. 1982 Jun;125(6):773-5
references.pmid: 7091888
references.citation: Nat Genet. 2003 Apr;33(4):459-61
references.pmid: 12640453
references.citation: Chest. 2005 Jan;127(1):72-9
references.pmid: 15653965
references.citation: Am J Respir Crit Care Med. 2006 Oct 15;174(8):923-7
references.pmid: 16873766
references.citation: Am J Med Genet A. 2003 Dec 15;123A(3):267-78
references.pmid: 14608649
references.citation: Pneumologie. 1995 Mar;49 Suppl 1:155-7
references.pmid: 7617602
references.citation: Pneumologie. 1999 Oct;53 Suppl 2:S91-2
references.pmid: 10613051
references.citation: Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):49-54
references.pmid: 18675942
references.citation: Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44
references.pmid: 16888290
references.citation: Hum Genet. 2003 Dec;114(1):22-6
references.pmid: 14566559
references.citation: Am J Hum Genet. 2005 Mar;76(3):421-6
references.pmid: 15657873
references.citation: Eur Respir J. 2007 Feb;29(2):312-6
references.pmid: 17264323
references.citation: Respiration. 2004 Mar-Apr;71(2):195-8
references.pmid: 15031579
references.citation: Chest. 1989 Nov;96(5):1210-2
references.pmid: 2680324
references.citation: Australas Ann Med. 1967 Feb;16(1):20-32
references.pmid: 6032026