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A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report

Overview of attention for article published in Journal of Medical Case Reports, May 2017
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Title
A newly identified novel variant in the CSF2RA gene in a child with pulmonary alveolar proteinosis: a case report
Published in
Journal of Medical Case Reports, May 2017
DOI 10.1186/s13256-017-1285-4
Pubmed ID
Authors

Adel S. Al-Haidary, Wadha Alotaibi, Sami A. Alhaider, Suhail Al-Saleh

Abstract

The congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene. A 5-year-old Saudi boy presented with a history of progressive dyspnea over 6 months; he was diagnosed as having pulmonary alveolar proteinosis. A molecular study revealed a novel variation in colony stimulating factor 2 receptor alpha gene. His clinical condition showed significant improvement after whole lung lavage. This case has the typical presentation of congenital pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha defect with a novel variant in this gene likely to be pathogenic.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 2 22%
Student > Master 2 22%
Student > Doctoral Student 1 11%
Other 1 11%
Student > Bachelor 1 11%
Other 0 0%
Unknown 2 22%
Readers by discipline Count As %
Medicine and Dentistry 5 56%
Nursing and Health Professions 2 22%
Unknown 2 22%
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 03 May 2017.
All research outputs
#18,546,002
of 22,968,808 outputs
Outputs from Journal of Medical Case Reports
#2,276
of 3,939 outputs
Outputs of similar age
#236,542
of 310,760 outputs
Outputs of similar age from Journal of Medical Case Reports
#49
of 88 outputs
Altmetric has tracked 22,968,808 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 3,939 research outputs from this source. They receive a mean Attention Score of 4.0. This one is in the 11th percentile – i.e., 11% 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 310,760 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 88 others from the same source and published within six weeks on either side of this one. This one is in the 9th percentile – i.e., 9% of its contemporaries scored the same or lower than it.