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Showing 1 to 3 of 3 for “"Phaeochromocytoma"”.

  1. "Interrogating the genomic and metabolomic landscape of pseudohypoxic phaeochromocytoma and paraganglioma syndromes"

    Phaeochromocytomas and paragangliomas (PPGLs) are rare neural-crest derived tumours with one of the highest germline heritability rates of all neoplasias at ~40%[1, 2]. Molecular genetic testing and transcriptional stratification of PPGLs have highlighted that tumours with succinate dehydrogenase …

    cambridge Repository record for "Interrogating the genomic and metabolomic landscape of pseudohypoxic phaeochromocytoma and paraganglioma syndromes" (opens in a new tab)

  2. A study of succinate dehydrogenase deficient tumourigenesis: From functional assessment of variant pathogenicity to the discovery of new disease biomarkers

    … to a spectrum of tumourigenesis including phaeochromocytoma, paraganglioma (1) (PPGL), gastrointestinal stromal tumours (GIST) (2), renal cell carcinoma (RCC) (3) and pituitary adenomas (4). Pathogenic variants in each of the four genes (SDHx) encoding the four sub-components of this …

    cambridge Repository record for A study of succinate dehydrogenase deficient tumourigenesis: From functional assessment of variant pathogenicity to the discovery of new disease biomarkers (opens in a new tab)