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PedAM

Pediatric Disease Annotations & Medicines




Disease congenital central hypoventilation syndrome
Phenotype C0027819|neuroblastoma
Sentences 1
PubMedID- 26011159 neuroblastoma in patients with congenital central hypoventilation syndrome (cchs) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (phox2b) non-polyalanine-repeat-expansion mutations.

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