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Article

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

American journal of human genetics - 1 Apr 2006

Del Campo Miguel, Antonell Anna, Magano Luis F, Muñoz Francisco J, Flores Raquel, Bayés Mònica, Pérez Jurado Luis A

Abstract excerpt

Williams-Beuren syndrome (WBS), caused by a heterozygous deletion at 7q11.23, represents a model for studying hypertension, the leading risk factor for mortality worldwide, in a genetically determined disorder. Haploinsufficiency at the elastin gene is known to lead to the vascular stenoses in WBS and is also thought to predispose to hypertension, present in approximately 50% of patients. Detailed clinical and...

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Source

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Identifiers

PMID: 16532385
DOI: 10.1086/501073
PMCID: PMC1424678

Genes

NCF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.PMID 16532385Read ↗

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