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KBG syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, December 2017
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2 X users
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2 Wikipedia pages

Citations

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58 Dimensions

Readers on

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107 Mendeley
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Title
KBG syndrome
Published in
Orphanet Journal of Rare Diseases, December 2017
DOI 10.1186/s13023-017-0736-8
Pubmed ID
Authors

Dayna Morel Swols, Joseph Foster, Mustafa Tekin

Abstract

KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated with seizures and EEG abnormalities. The condition was named KBG syndrome after the initials of the last names of three original families reported in 1975. The prevalence of KBG syndrome is not established. There are over 100 patients reported in the literature. It is likely that KBG syndrome is underreported due to incomplete recognition and very mild presentations of the disorder in some individuals. KBG syndrome is typically milder in females. Causative variants in ANKRD11 have been identified in affected individuals. The vast majority of identified variants are loss of function, which include nonsense and frameshift variants and larger deletions at 16q24.3. Haploinsufficiency appears to be the mechanism of pathogenicity. Familial and de novo cases have been reported. Causative de novo variants occur approximately one third of the time. Transmission follows an autosomal dominant pattern. The syndrome displays inter- and intra-familial variability.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users 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 107 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 107 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 20 19%
Student > Master 15 14%
Student > Ph. D. Student 9 8%
Researcher 7 7%
Student > Doctoral Student 6 6%
Other 16 15%
Unknown 34 32%
Readers by discipline Count As %
Medicine and Dentistry 29 27%
Biochemistry, Genetics and Molecular Biology 9 8%
Nursing and Health Professions 9 8%
Agricultural and Biological Sciences 4 4%
Neuroscience 4 4%
Other 12 11%
Unknown 40 37%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 18 December 2020.
All research outputs
#6,353,985
of 23,012,811 outputs
Outputs from Orphanet Journal of Rare Diseases
#858
of 2,640 outputs
Outputs of similar age
#127,787
of 440,404 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#19
of 31 outputs
Altmetric has tracked 23,012,811 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 2,640 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one has gotten more attention than average, scoring higher than 66% 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 440,404 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 70% of its contemporaries.
We're also able to compare this research output to 31 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.