Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

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 o...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3778347/
https://ncbi.nlm.nih.gov/pubmed/23340515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.310
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