Article
Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.
Oncogene - 17 Jan 2008
Raabe E H, Laudenslager M, Winter C, Wasserman N, Cole K, LaQuaglia M, Maris D J, Mosse Y P, Maris J M
Abstract excerpt
PHOX2B is a homeodomain-containing protein that is involved in the development of the peripheral nervous system and is the major disease gene for the rare congenital breathing disorder congenital central hypoventilation syndrome (CCHS). Germline PHOX2B alterations were also recently discovered in neuroblastoma cases with CCHS and/or Hirschsprung disease, but a comprehensive survey for mutational frequency and...
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