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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
|
|---|---|
| Published in |
Frontiers in Genetics, May 2018
|
| DOI | 10.3389/fgene.2018.00181 |
| Pubmed ID | |
| Authors |
Yahong Li, Dingyuan Ma, Yun Sun, Lulu Meng, Yanyun Wang, Tao Jiang |
| Abstract |
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene. Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was identified by sanger sequencing and a mutation in the exon 7 of FGFR2 gene was detected: p.Pro253Arg (P253R) 758 C > G, which was not found in his parents. Conclusion: The baby had Apert syndrome caused by 758 C > G mutation in the exon 7 of FGFR2 gene, considering no this mutation in his parents, it was spontaneous. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Switzerland | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
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 > Master | 3 | 16% |
| Student > Bachelor | 2 | 11% |
| Student > Postgraduate | 2 | 11% |
| Student > Ph. D. Student | 2 | 11% |
| Other | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 9 | 47% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 16% |
| Biochemistry, Genetics and Molecular Biology | 2 | 11% |
| Agricultural and Biological Sciences | 2 | 11% |
| Psychology | 1 | 5% |
| Earth and Planetary Sciences | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 9 | 47% |
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 17 May 2018.
All research outputs
#20,493,843
of 23,057,470 outputs
Outputs from Frontiers in Genetics
#8,754
of 12,106 outputs
Outputs of similar age
#288,304
of 328,266 outputs
Outputs of similar age from Frontiers in Genetics
#122
of 126 outputs
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So far Altmetric has tracked 12,106 research outputs from this source. They receive a mean Attention Score of 3.7. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 126 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.