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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, February 2013
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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, February 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.

X Demographics

X Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 3%
Unknown 32 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 15%
Researcher 4 12%
Student > Master 4 12%
Student > Bachelor 3 9%
Student > Postgraduate 3 9%
Other 7 21%
Unknown 7 21%
Readers by discipline Count As %
Medicine and Dentistry 13 39%
Agricultural and Biological Sciences 5 15%
Biochemistry, Genetics and Molecular Biology 4 12%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Immunology and Microbiology 1 3%
Other 1 3%
Unknown 8 24%
Attention Score in Context

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
#17,286,379
of 25,374,647 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,051
of 3,105 outputs
Outputs of similar age
#132,540
of 205,501 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#31
of 48 outputs
Altmetric has tracked 25,374,647 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 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. 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 205,501 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 48 others from the same source and published within six weeks on either side of this one. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.