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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Leopard syndrome: a report of five cases from one family in two generations
|
|---|---|
| Published in |
European Journal of Pediatrics, January 2014
|
| DOI | 10.1007/s00431-013-2243-9 |
| Pubmed ID | |
| Authors |
Fatima Begić, Husref Tahirović, Mediha Kardašević, Ingrid Kalev, Kai Muru |
| Abstract |
This is the first reported family with Leopard syndrome (LS) from Bosnia and Herzegovina. We report five cases of LS from two generations of the same family. In the present series of patients from one family, all patients carry the same recurrent mutation Y279C in the PTPN11 gene, exhibiting different phenotypes and a variable expression of multiple lentigines. The diagnosis may be on clinical basis as the diagnostic clues of LS are: multiple lentigines and cafè-au-lait-spots, short stature, distinctive face, congenital heart disease, conduction abnormalities, abnormal genitalia, and sensorineural deafness. Conclusion: the clinical diagnosis of LS should be molecularly confirmed in the patient. |
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 % |
|---|---|---|
| United Kingdom | 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 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 8 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 1 | 13% |
| Student > Bachelor | 1 | 13% |
| Other | 1 | 13% |
| Student > Doctoral Student | 1 | 13% |
| Unknown | 4 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 38% |
| Unknown | 5 | 63% |
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 08 January 2014.
All research outputs
#18,359,382
of 22,738,543 outputs
Outputs from European Journal of Pediatrics
#3,100
of 3,680 outputs
Outputs of similar age
#228,706
of 304,788 outputs
Outputs of similar age from European Journal of Pediatrics
#29
of 54 outputs
Altmetric has tracked 22,738,543 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,680 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
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We're also able to compare this research output to 54 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.