Congenital central hypoventilation syndrome and carbon dioxide sensitivity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-014-2432-1.pdf
Reference14 articles.
1. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHO2B in congenital central hypoventilation syndrome. Nat Genet 33:459–461
2. Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, Weese-Mayer DE (2014) Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome. J Appl Physiol 116:439–450
3. Dubreuil V, Ramanantsoa N, Trochet D, Vaubourg V, Amiel J, Gallego J, Brunet JF, Goridis C (2008) A human mutation in Phox2B causes lack of CO2 chemosensitivity, fatal central apnea and specific loss of parafacial neurons. Proc Natl Acad Sci U S A 105:1067–1072
4. Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MA, Mellins RB (1978) Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine (Baltimore) 57:517–526
5. Lingappa L, Panigrahi NK, Chirla DK, Burton-Jones S, Williams MM (2012) Congenital central hypoventilation syndrome with PHOX2B gene mutation. Indian J Pediatr 79:1526–1528
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1. Pediatric home mechanical ventilation: A Canadian Thoracic Society clinical practice guideline executive summary;Canadian Journal of Respiratory, Critical Care, and Sleep Medicine;2017-01-02
2. The retrotrapezoid nucleus neurons expressing Atoh1 and Phox2b are essential for the respiratory response to CO2;eLife;2015-04-13
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