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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease neuroblastoma
Comorbidity C1736133|congenital central hypoventilation syndrome
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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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