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Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation

Overview of attention for article published in PRS Global Open, July 2015
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Title
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation
Published in
PRS Global Open, July 2015
DOI 10.1097/gox.0000000000000369
Pubmed ID
Authors

Bharesh K. Chauhan, Jacqueline M. Hoover, Hannah Scanga, Anagha Medsinge, Georgianne L. Arnold, Ken K. Nischal

Abstract

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagittal synostosis. His mother also showed clinical features of CFNS, but less severe. Genetic tests uncovered a novel C to T mutation at nucleotide 466 (c.466C>T) in exon 1 of EFNB1 for both. To the best of our knowledge, this is the only reported incident of CFNS in a male child exhibiting isolated sagittal synostosis.

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

Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 20%
Student > Ph. D. Student 2 20%
Professor 1 10%
Researcher 1 10%
Student > Postgraduate 1 10%
Other 0 0%
Unknown 3 30%
Readers by discipline Count As %
Medicine and Dentistry 4 40%
Neuroscience 1 10%
Unspecified 1 10%
Unknown 4 40%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 05 August 2015.
All research outputs
#22,778,604
of 25,394,764 outputs
Outputs from PRS Global Open
#4,133
of 4,271 outputs
Outputs of similar age
#235,576
of 276,231 outputs
Outputs of similar age from PRS Global Open
#99
of 100 outputs
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So far Altmetric has tracked 4,271 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.5. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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