Congenital central hypoventilation syndrome (CCHS) and PHOX2B pathogenic variants
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Publisher
Elsevier
Reference11 articles.
1. An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management;Weese-Mayer;Am J Respir Crit Care Med,2010
2. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome;Amiel;Nat Genet,2003
3. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b;Weese-Mayer;Am J Med Genet A,2003
4. Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis;Pattyn;Development,1997
5. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction;Trochet;Hum Mol Genet,2005
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