Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"SDHx"”.
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"Interrogating the genomic and metabolomic landscape of pseudohypoxic phaeochromocytoma and paraganglioma syndromes"
… tumours with succinate dehydrogenase deficiency (SDHx) are among the most frequently mutated group of susceptibility genes. Identifying individuals carrying a pathogenic variant in one of these genes leads to lifelong surveillance. Despite the low tumour penetrance, SDHx deficient PPGLs are …
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A study of succinate dehydrogenase deficient tumourigenesis: From functional assessment of variant pathogenicity to the discovery of new disease biomarkers
… Pathogenic variants in each of the four genes (SDHx) encoding the four sub-components of this complex (SDHA/B/C/D) have been associated with tumourigenesis. Germline pathogenic variants in SDHB account for up to 50% of patients with malignant PPGL and a 5 year survival of less than 50% in those …