Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-020-01363-w.pdf
Reference37 articles.
1. Basu SM, Chung FF, AbdelHakim SF et al (2017) J. anesthetic considerations for patients with congenital central hypoventilation syndrome: a systematic review of the literature. Anesth Analg 124:169–178. https://doi.org/10.1213/ANE.0000000000001470
2. Parodi S, Bachetti T, Lantieri F et al (2008) Parental origin and somatic mosaicism of PHOX2B mutations in congenital central hypoventilation syndrome. Hum Mutat 29:206. https://doi.org/10.1002/humu.9516
3. Mellins RB, Balfour HH, Turino GM et al (1970) Failure of automatic control of ventilation (Ondine’s curse). Med (Baltim) 49:487–504
4. Amiel J, Laudier B, Attié-Bitach T et al (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33:459–461. https://doi.org/10.1038/ng1130
5. Haddad GG, Mazza NM, Defendi R et al (1978) Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Med (Baltim) 57:517–526. https://doi.org/10.1097/00005792-197811000-00003
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