Ontology highlight
ABSTRACT:
SUBMITTER: Trochet D
PROVIDER: S-EPMC1181953 | biostudies-literature | 2004 Apr
REPOSITORIES: biostudies-literature
American journal of human genetics 20040311 4
Neuroblastoma (NB) is a frequent pediatric tumor for which recurrent somatic rearrangements are known. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-derived cells--namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS). We recently identified the paired-like homeobox 2B (PHOX2B) gene as the major disease-causing ...[more]