Article
Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.
The Journal of clinical investigation - 1 Sept 2012
Nagashimada Mayumi, Ohta Hiroshi, Li Chong, Nakao Kazuki, Uesaka Toshihiro, Brunet Jean-François, Amiel Jeanne, Trochet Delphine, Wakayama Teruhiko, Enomoto Hideki
Abstract excerpt
The most common forms of neurocristopathy in the autonomic nervous system are Hirschsprung disease (HSCR), resulting in congenital loss of enteric ganglia, and neuroblastoma (NB), childhood tumors originating from the sympathetic ganglia and adrenal medulla. The risk for these diseases dramatically increases in patients with congenital central hypoventilation syndrome (CCHS) harboring a nonpolyalanine repeat...
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