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Mendeley readers
Attention Score in Context
| Title |
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant
|
|---|---|
| Published in |
BMC Medical Genomics, October 2015
|
| DOI | 10.1186/s12881-015-0247-1 |
| Pubmed ID | |
| Authors |
Huijun Wang, Yanyan Qian, Bingbing Wu, Ping Zhang, Wenhao Zhou |
| Abstract |
Linear nevus sebaceous syndrome (LNSS) is a multisystem disorder that includes nevus sebaceous and central nervous system, ocular and skeletal anomalies. We report the first case of a KRAS G12D mosaic mutation in a patient diagnosed with LNSS. A 3-month-old female with a clinical diagnosis of LNSS presented with intermittent epilepsy. Her mother carefully collected a skin lesion sample from scratched-off scurf obtained from the patient's nails. DNA was extracted, and long-range PCR was performed to amplify the KRAS gene, which was then analyzed by next-generation sequencing. The results revealed the presence of a low-level heterozygous mutation in the KRAS gene (c.35C>T; p.G12D, 5 %). These findings suggest that the KRAS somatic mosaic mutation in this patient may have caused her skin and eye lesions and epilepsy. With this correct diagnosis, the infant can be effectively treated. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 13 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 3 | 23% |
| Other | 2 | 15% |
| Student > Ph. D. Student | 2 | 15% |
| Researcher | 2 | 15% |
| Student > Bachelor | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 3 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 46% |
| Neuroscience | 2 | 15% |
| Biochemistry, Genetics and Molecular Biology | 2 | 15% |
| Unknown | 3 | 23% |
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 02 November 2015.
All research outputs
#17,285,668
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,315
of 2,444 outputs
Outputs of similar age
#176,554
of 294,977 outputs
Outputs of similar age from BMC Medical Genomics
#29
of 54 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 36th percentile – i.e., 36% 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 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.