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Article

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

European journal of human genetics : EJHG - 1 Oct 2013

Stasia Marie J, Mollin Michèle, Martel Cécile, Satre Véronique, Coutton Charles, Amblard Florence, Vieville Gaëlle, van Montfrans Joris M, Boelens Jaap J, Veenstra-Knol Hermine E, van Leeuwen Karen, de Boer Martin, Brion Jean-Paul, Roos Dirk

Abstract excerpt

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55-1.83 Mb at chromosomal band 7q11.23. The deletion can include the NCF1 gene that encodes the p47(phox) protein, a component of the leukocyte NADPH oxidase enzyme, which is essential for the defense against microbial pathogens. It has been postulated that WBS...

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Identifiers

PMID: 23340515
DOI: 10.1038/ejhg.2012.310
PMCID: PMC3778347

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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Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.PMID 23340515Read ↗

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