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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Overview of attention for article published in American Journal of Medical Genetics. Part A, November 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (84th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

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1 news outlet
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1 X user
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1 Facebook page

Citations

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10 Dimensions

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19 Mendeley
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Title
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies
Published in
American Journal of Medical Genetics. Part A, November 2016
DOI 10.1002/ajmg.a.38059
Pubmed ID
Authors

Keren Machol, Mahim Jain, Mohammed Almannai, Thibault Orand, James T. Lu, Alyssa Tran, Yuqing Chen, Alan Schlesinger, Richard Gibbs, Luisa Bonafe, Ana Belinda Campos‐Xavier, Sheila Unger, Andrea Superti‐Furga, Brendan H. Lee, Philippe M. Campeau, Lindsay C. Burrage

Abstract

Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies. The finding of one of the pathogenic variants in a previously reported case of spondyloepimetaphyseal dysplasia (SEMD) Strudwick type and the significant clinical similarity suggest an overlap between SMD corner fracture and SEMD Strudwick types. © 2016 Wiley Periodicals, Inc.

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 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Doctoral Student 2 11%
Student > Bachelor 2 11%
Student > Master 2 11%
Student > Ph. D. Student 2 11%
Researcher 2 11%
Other 2 11%
Unknown 7 37%
Readers by discipline Count As %
Medicine and Dentistry 5 26%
Nursing and Health Professions 2 11%
Sports and Recreations 1 5%
Unknown 11 58%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 December 2016.
All research outputs
#3,561,561
of 25,374,917 outputs
Outputs from American Journal of Medical Genetics. Part A
#279
of 4,208 outputs
Outputs of similar age
#65,455
of 416,643 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#5
of 50 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done well and is in the 85th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,208 research outputs from this source. They receive a mean Attention Score of 4.3. This one has done particularly well, scoring higher than 93% 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 416,643 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 84% of its contemporaries.
We're also able to compare this research output to 50 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 90% of its contemporaries.