Variable human phenotype associated with novel deletions of the <i>PHOX2B</i> gene

Abstract

PHOX2B exon or whole gene deletion should be considered as another mechanism of disease which may include CCHS, Hirschsprung disease, and/or tumors of neural crest origin, although the genotype-phenotype relationship requires further clarification. Pediatr Pulmonol. 2012; 47:153-161. © 2011 Wiley Periodicals, Inc.