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Article

Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.

Human genetics - 1 Jul 2003

Niemann Stephan, Müller Ulrich, Engelhardt Dieter, Lohse Peter

Abstract excerpt

Mutations in SDHC cause autosomal dominant paraganglioma, type 3 (PGL3), and have to date been demonstrated in only one family. Here, we report on a novel mutation in a patient with a malignant, catecholamine-producing paraganglioma at the carotid bifurcation. The mutation is a G-->T transversion...

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Source

Identifiers

PMID: 12658451
DOI: 10.1007/s00439-003-0938-0

Genes

SDHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12658451-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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