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Article

SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.

Journal of medical genetics - 1 Jan 2023

Bayley Jean Pierre, Bausch Birke, Jansen Jeroen C, Hensen Erik F, van der Tuin Karin, Corssmit Eleonora Pm, Devilee Peter, Neumann Hartmut Ph

Abstract excerpt

BACKGROUND: Traditional genotype-phenotype correlations for the succinate dehydrogenase-complex II (SDH) genes link SDHB variants to thoracic-abdominal pheochromocytoma-paraganglioma (PPGL) and SDHD variants to head and neck paraganglioma (HNPGL). However, in a recent study we found strong and specific genotype-phenotype associations for SDHD variants. In the present study we zoom in on the genotype-phenotype...

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Share to Adrenal and Paraganglionic Tumors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34750193
DOI: 10.1136/jmedgenet-2020-107656

Provenance

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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