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Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion

Overview of attention for article published in Molecular Cytogenetics, December 2015
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (54th percentile)
  • High Attention Score compared to outputs of the same age and source (89th percentile)

Mentioned by

twitter
3 tweeters

Citations

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3 Dimensions

Readers on

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13 Mendeley
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Title
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
Published in
Molecular Cytogenetics, December 2015
DOI 10.1186/s13039-015-0201-0
Pubmed ID
Authors

Qi Li, Zhen Zhang, Yuchun Yan, Ping Xiao, Zhijie Gao, Wei Cheng, Lin Su, Kaihui Yu, Hua Xie, Xiaoli Chen, Qian Jiang, Long Li

Abstract

Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome. Herewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II. A contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating a de novo origin of the deletion and complete penetrance of the mutation.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Professor > Associate Professor 3 23%
Student > Postgraduate 2 15%
Other 1 8%
Student > Bachelor 1 8%
Lecturer > Senior Lecturer 1 8%
Other 4 31%
Unknown 1 8%
Readers by discipline Count As %
Medicine and Dentistry 4 31%
Biochemistry, Genetics and Molecular Biology 4 31%
Unspecified 1 8%
Chemistry 1 8%
Nursing and Health Professions 1 8%
Other 0 0%
Unknown 2 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 19 December 2015.
All research outputs
#2,869,003
of 6,792,385 outputs
Outputs from Molecular Cytogenetics
#54
of 215 outputs
Outputs of similar age
#121,517
of 291,199 outputs
Outputs of similar age from Molecular Cytogenetics
#3
of 37 outputs
Altmetric has tracked 6,792,385 research outputs across all sources so far. This one has received more attention than most of these and is in the 55th percentile.
So far Altmetric has tracked 215 research outputs from this source. They receive a mean Attention Score of 1.8. This one has gotten more attention than average, scoring higher than 71% 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 291,199 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.
We're also able to compare this research output to 37 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.