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A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

Overview of attention for article published in BMC Pediatrics, March 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (75th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (58th percentile)

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1 blog
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Citations

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31 Mendeley
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Title
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report
Published in
BMC Pediatrics, March 2018
DOI 10.1186/s12887-018-1091-1
Pubmed ID
Authors

Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng

Abstract

Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis. Finally he was diagnosed with WS because of diabetes mellitus (DM) and optic atrophy (OA). Eight exons and flanking introns of WFS1 gene were analyzed by sequencing. A novel mutation c.1760G > A in WFS1 gene of exon 8 was identified. This report reviews a case of WS associated with a novel mutation, c.1760G > A in WFS1 gene of exon 8, and emphasizes that WS should be taken into account for juveniles with visual loss and diabetes mellitus.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user 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 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 31 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 5 16%
Researcher 5 16%
Other 3 10%
Student > Master 3 10%
Student > Ph. D. Student 1 3%
Other 3 10%
Unknown 11 35%
Readers by discipline Count As %
Medicine and Dentistry 6 19%
Biochemistry, Genetics and Molecular Biology 3 10%
Neuroscience 3 10%
Nursing and Health Professions 2 6%
Agricultural and Biological Sciences 2 6%
Other 3 10%
Unknown 12 39%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 22 July 2018.
All research outputs
#4,122,159
of 23,028,364 outputs
Outputs from BMC Pediatrics
#729
of 3,039 outputs
Outputs of similar age
#88,661
of 359,612 outputs
Outputs of similar age from BMC Pediatrics
#36
of 97 outputs
Altmetric has tracked 23,028,364 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,039 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one has done well, scoring higher than 75% of its peers.
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 359,612 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 75% of its contemporaries.
We're also able to compare this research output to 97 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 58% of its contemporaries.