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Article

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

American journal of human genetics - 1 Aug 2008

Ni Ying, Zbuk Kevin M, Sadler Tammy, Patocs Attila, Lobo Glenn, Edelman Emily, Platzer Petra, Orloff Mohammed S, Waite Kristin A, Eng Charis

Abstract excerpt

Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, and endometrial neoplasias. Many more patients with features of CS, not meeting diagnostic criteria (termed CS-like), are evaluated by clinicians for CS-related cancer risk. Germline mutations in succinate dehydrogenase subunits SDHB-D cause pheochromocytoma-paraganglioma syndrome. One to five percent of SDHB/SDHD mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 18678321
DOI: 10.1016/j.ajhg.2008.07.011
PMCID: PMC2495063

Genes

PTEN
SDHB
SDHD

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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Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.PMID 18678321Read ↗

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