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Article

Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.

Endocrine-related cancer - 1 May 2023

Davidoff Dahlia F, Lim Eugénie S, Benn Diana E, Subramaniam Yuvanaa, Dorman Eleanor, Burgess John R, Akker Scott A, Clifton-Bligh Roderick J

Abstract excerpt

Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for Krebs's cycle enzymes, including succinate dehydrogenase (SDH). Inheritance of SDH alleles is assumed to be Mendelian (probability of 50% from each parent). The departure from transmission of parental alleles in a ratio of 1:1 is termed transmission ratio...

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PMID: 36786389
DOI: 10.1530/ERC-22-0233

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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