Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/article/10.1186/s12883-015-0299-z/fulltext.html
Reference24 articles.
1. Mellins RB, Balfour HH, Turino GM, et al. Failure of automatic control of ventilation (Ondine’s curse). Medicine. 1970;49:487–504.
2. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis. Diagnosis. And management. Am J Respir Crit Care Med. 2010;181(6):626–44.
3. Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C, et al. French CCHS working group. The French congenital central hypoventilation syndrome registry: general data, phenotype and genotype. Chest. 2005;127(1):72–9.
4. Amiel J, Laudier B, Attié-Bitach T, Trang H, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003;33(4):459–61.
5. Matera I, Bachetti T, Puppo F, et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet. 2004;41(5):373–80.
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