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Functional and genetic characterization of two extremely rare cases of Williams|[ndash]|Beuren syndrome associated with chronic granulomatous disease

Overview of attention for article published in European Journal of Human Genetics, January 2013
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Title
Functional and genetic characterization of two extremely rare cases of Williams|[ndash]|Beuren syndrome associated with chronic granulomatous disease
Published in
European Journal of Human Genetics, January 2013
DOI 10.1038/ejhg.2012.310
Pubmed ID
Authors

Marie J Stasia, Mich|[egrave]|le Mollin, C|[eacute]|cile Martel, V|[eacute]|ronique Satre, Charles Coutton, Florence Amblard, Ga|[euml]|lle Vieville, Joris M van Montfrans, Jaap J Boelens, Hermine E Veenstra-Knol, Karen van Leeuwen, Martin de Boer, Jean-Paul Brion, Dirk Roos, Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D, Michèle Mollin, Cécile Martel, Véronique Satre, Gaëlle Vieville

Abstract

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 patients with two functional NCF1 genes are more susceptible to occurrence of hypertension than WBS patients with only one functional NCF1 gene. We now describe two extremely rare WBS patients without any functional NCF1 gene, because of a mutation in NCF1 on the allele not carrying the NCF1-removing WBS deletion. These two patients suffer from chronic granulomatous disease with increased microbial infections in addition to WBS. Interestingly, one of these patients did suffer from hypertension, indicating that other factors than NADPH oxidase in vascular tissue may be involved in causing hypertension.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 3 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 3 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 2 67%
Student > Doctoral Student 1 33%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 67%
Medicine and Dentistry 1 33%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 23 January 2013.
All research outputs
#3,079,990
of 4,507,144 outputs
Outputs from European Journal of Human Genetics
#1,182
of 1,466 outputs
Outputs of similar age
#196,140
of 285,880 outputs
Outputs of similar age from European Journal of Human Genetics
#35
of 51 outputs
Altmetric has tracked 4,507,144 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,466 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.1. This one is in the 11th percentile – i.e., 11% of its peers scored the same or lower than it.
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We're also able to compare this research output to 51 others from the same source and published within six weeks on either side of this one. This one is in the 11th percentile – i.e., 11% of its contemporaries scored the same or lower than it.