Funder
Chicago Community Trust (US) PHOX2B Patent Fund
National Center for Advancing Translational Sciences
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Endocrine and Autonomic Systems
Reference49 articles.
1. Saiyed R, Rand C, Carroll MS, Weese-Mayer DE (2014) Hypoventilation syndromes of infancy, childhood, and adulthood: congenital central hypoventilation syndrome (CCHS), later-onset CCHS, and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation. Sleep Med Clin 9:P425-439
2. Weese-Mayer DE, Rand CM, Khaytin I, Slattery SM, Yap KL, Marazita ML, Berry-Kravis EM (2021) Congenital Central Hypoventilation Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A (eds). GeneReviews((R)). Seattle (WA)
3. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H, Subcommittee ATSCCHS (2010) An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med 181:626–644
4. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML (2003) Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A 123A:267–278
5. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, Ravazzolo R, Ottonello G, Ceccherini I (2004) 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 41:373–380
Cited by
5 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献