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Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest-derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance.[1]

References

  1. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Niemann, S., Müller, U. Nat. Genet. (2000) [Pubmed]
 
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