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Article

Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.

The Journal of clinical endocrinology and metabolism - 1 Jul 2014

Casey Ruth, Garrahy Aoife, Tuthill Antoinette, O'Halloran Domhnall, Joyce Caroline, Casey Mary B, O'Shea Paula, Bell Marcia

Abstract excerpt

CONTEXT: Hereditary pheochromocytoma/paraganglioma (PC/PGL) accounts for up to 60% of previously considered sporadic tumors. Guidelines suggest that phenotype should guide genetic testing. Next-generation sequencing technology can simultaneously sequence 9 of the 18 known susceptibility genes in a timely, cost-efficient manner. OBJECTIVE: Our aim was to confirm that universal screening is superior to targeted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24712571
DOI: 10.1210/jc.2013-4536

Genes

SDHAF2
RET
SDHB
SDHC
SDHD
VHL
MAX
SDHA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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