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Article

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.

The Journal of clinical endocrinology and metabolism - 1 Jan 2010

Erlic Zoran, Hoffmann Michael M, Sullivan Maren, Franke Gerlind, Peczkowska Mariola, Harsch Igor, Schott Matthias, Gabbert Helmut E, Valimäki Matti, Preuss Simon F, Hasse-Lazar Kornelia, Waligorski Dariusz, Robledo Mercedes, Januszewicz Andrzej, Eng Charis, Neumann Hartmut P H

Abstract excerpt

CONTEXT: Cancer genetics is fundamental for preventive medicine, in particular in pheochromocytoma-associated syndromes. Variants in two susceptibility genes, SDHC and RET, were found in a kindred with head and neck paraganglioma. This observation of coincident DNA variants, both reported as path...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19906784
DOI: 10.1210/jc.2009-1728
PMCID: PMC2805484

Genes

VHL
RET
SDHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19906784-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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