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Article

Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas.

The Journal of clinical endocrinology and metabolism - 1 May 2013

Beristain Elena, Vicente Maria-Angeles, Guerra Isabel, Gutiérrez-Corres Francisco-Borja, Garin Intza, Perez de Nanclares Guiomar

Abstract excerpt

CONTEXT: Succinate dehydrogenase complex, subunit D (SDHD) mutations cause pheochromocytoma/paraganglioma syndrome. SDHD, located at chromosome 11q23, shows a parent-of-origin effect because the disease is observed almost exclusively when the mutation is transmitted from the father, although some cases of maternal transmission have been reported. Several hypotheses have been proposed for this peculiar inheritance...

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Share to Chromosomes, Human, Pair 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23493432
DOI: 10.1210/jc.2012-4083

Genes

SDHD

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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Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas.PMID 23493432Read ↗

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