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Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome

Overview of attention for article published in Ai zheng Aizheng Chinese journal of cancer, January 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#24 of 265)
  • High Attention Score compared to outputs of the same age (85th percentile)
  • Good Attention Score compared to outputs of the same age and source (72nd percentile)

Mentioned by

blogs
2 blogs

Citations

dimensions_citation
8 Dimensions

Readers on

mendeley
11 Mendeley
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Title
Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome
Published in
Ai zheng Aizheng Chinese journal of cancer, January 2017
DOI 10.1186/s40880-016-0172-5
Pubmed ID
Authors

Teng Li, Xianghui Ning, Qun He, Kan Gong

Abstract

Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations (c.946-947delAG in exon 9 and c.770-772delCCT in exon 7). Both of them had RCC and spontaneous pneumothorax without fibrofolliculomas. In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts (pneumothorax).

Mendeley readers

The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 36%
Lecturer 1 9%
Student > Ph. D. Student 1 9%
Other 1 9%
Student > Master 1 9%
Other 1 9%
Unknown 2 18%
Readers by discipline Count As %
Medicine and Dentistry 4 36%
Biochemistry, Genetics and Molecular Biology 2 18%
Nursing and Health Professions 1 9%
Immunology and Microbiology 1 9%
Agricultural and Biological Sciences 1 9%
Other 0 0%
Unknown 2 18%

Attention Score in Context

This research output has an Altmetric Attention Score of 11. 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 07 April 2017.
All research outputs
#2,963,863
of 22,962,258 outputs
Outputs from Ai zheng Aizheng Chinese journal of cancer
#24
of 265 outputs
Outputs of similar age
#62,607
of 421,646 outputs
Outputs of similar age from Ai zheng Aizheng Chinese journal of cancer
#3
of 11 outputs
Altmetric has tracked 22,962,258 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 265 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.3. This one has done particularly well, scoring higher than 90% 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 421,646 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 85% of its contemporaries.
We're also able to compare this research output to 11 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 72% of its contemporaries.