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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2013
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Mentioned by

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2 tweeters

Citations

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25 Dimensions

Readers on

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25 Mendeley
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Title
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Published in
Orphanet Journal of Rare Diseases, January 2013
DOI 10.1186/1750-1172-8-36
Pubmed ID
Authors

Smail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard, Julie De Backer, Fransiska Malfait, Olivier M Vanakker, Paul J Coucke, Anne M De Paepe, Christine Bodemer

Abstract

Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 4%
Unknown 24 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 16%
Other 3 12%
Student > Postgraduate 3 12%
Student > Master 3 12%
Student > Ph. D. Student 2 8%
Other 6 24%
Unknown 4 16%
Readers by discipline Count As %
Medicine and Dentistry 9 36%
Agricultural and Biological Sciences 5 20%
Biochemistry, Genetics and Molecular Biology 3 12%
Computer Science 1 4%
Pharmacology, Toxicology and Pharmaceutical Science 1 4%
Other 0 0%
Unknown 6 24%

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 25 February 2013.
All research outputs
#2,294,202
of 4,507,652 outputs
Outputs from Orphanet Journal of Rare Diseases
#481
of 775 outputs
Outputs of similar age
#43,408
of 89,358 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#28
of 55 outputs
Altmetric has tracked 4,507,652 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 775 research outputs from this source. They receive a mean Attention Score of 3.4. This one is in the 26th percentile – i.e., 26% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 89,358 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 55 others from the same source and published within six weeks on either side of this one. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.