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First Case Report of Prader–Willi-Like Syndrome in Colombia

Overview of attention for article published in Frontiers in Genetics, March 2018
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Title
First Case Report of Prader–Willi-Like Syndrome in Colombia
Published in
Frontiers in Genetics, March 2018
DOI 10.3389/fgene.2018.00098
Pubmed ID
Authors

Estephania Candelo, Max M. Feinstein, Diana Ramirez-Montaño, Juan F. Gomez, Harry Pachajoa

Abstract

Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome. Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1-q21. Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 37 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 8 22%
Student > Ph. D. Student 7 19%
Student > Master 5 14%
Other 3 8%
Professor > Associate Professor 2 5%
Other 3 8%
Unknown 9 24%
Readers by discipline Count As %
Medicine and Dentistry 9 24%
Nursing and Health Professions 4 11%
Biochemistry, Genetics and Molecular Biology 3 8%
Agricultural and Biological Sciences 2 5%
Arts and Humanities 2 5%
Other 7 19%
Unknown 10 27%
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 21 March 2018.
All research outputs
#18,591,506
of 23,028,364 outputs
Outputs from Frontiers in Genetics
#7,166
of 12,082 outputs
Outputs of similar age
#258,173
of 332,402 outputs
Outputs of similar age from Frontiers in Genetics
#105
of 140 outputs
Altmetric has tracked 23,028,364 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 12,082 research outputs from this source. They receive a mean Attention Score of 3.7. This one is in the 27th percentile – i.e., 27% of its peers scored the same or lower than it.
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