Neoplasia in familial dysautonomia: a 20-year review in a young patient population.
retrospective_cohort · Level III
Where this comes from
- Record sourced from PubMed, PMID 19914433.
- Also identified by DOI 10.1016/j.jpeds.2009.04.055.
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Abstract
We reviewed the charts of all patients with familial dysautonomia (n = 631) and found that 2% had been diagnosed with tumors. We hypothesize that the IkappaB Kinase-associated protein gene mutation, which causes aberrant RNA splicing in patients with familial dysautonomia, may contribute to tumorigenesis in this genetically homogenous patient population.
Medical subject headings
- Dysautonomia, Familial
- Neoplastic Syndromes, Hereditary