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Article

Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

The Journal of clinical endocrinology and metabolism - 1 Dec 2011

Yeap Phey M, Tobias Edward S, Mavraki Eleni, Fletcher Alexander, Bradshaw Nicola, Freel E Marie, Cooke Alexander, Murday Victoria A, Davidson H Rosemarie, Perry Colin G, Lindsay Robert S

Abstract excerpt

CONTEXT: Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations. This parent-of-origin effect has not been fully explained but is accompanied by obligate loss of the maternal copy of chromosome 11. Loss of wild-type SDHD and an additional imprinted gene (hypothesized to be H19) appears necessary for tumor formation. Two previous reports...

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Share to Adrenal Gland Neoplasms
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21937622
DOI: 10.1210/jc.2011-1244

Genes

SDHD
SDHAF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.PMID 21937622Read ↗

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