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Article

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery - 1 Sept 2021

Koenighofer Martin, Parzefall Thomas, Frohne Alexandra, Frei Elisabeth, Schoefer Christian, Laccone Franco, Feil Patricia, Frei Klemens, Lucas Trevor

Abstract excerpt

OBJECTIVE: Identification of variations in tumour suppressor genes encoding the tetrameric succinate dehydrogenase (SDHx) mitochondrial enzyme complex may lead to personalised therapeutic concepts for the orphan disease, familial paraganglioma (PGL) type 1-5. We undertook to determine the causative variation in a family suffering from idiopathic early-onset (22 ± 2 years) head and neck PGL by PCR and Sanger...

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Identifiers

PMID: 33851515
DOI: 10.1111/coa.13782
PMCID: PMC8453574

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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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