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Mendeley readers
Attention Score in Context
| Title |
Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
|
|---|---|
| Published in |
BMC Medical Genomics, February 2015
|
| DOI | 10.1186/s12881-015-0146-5 |
| Pubmed ID | |
| Authors |
Said Farschtschi, Victor-Felix Mautner, Silke Hollants, Christian Hagel, Marijke Spaepen, Christoph Schulte, Eric Legius, Hilde Brems |
| Abstract |
Keratinocytic epidermal nevus syndrome (KENS) is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. A small number of cases with KENS are molecularly characterized and reported in the literature with somatic activating RAS, FGFR3 and PIK3CA mutations. In this study we present a patient with hyper- and hypopigmented regions, verrucous pigmented skin lesions and a paravertebral conglomerate tumour at the level of the cervical and thoracic spine. A large lipomatous dumbbell tumour caused atrophy of the spinal cord with progressive paraparesis. We identified a mosaic c.35G > A (p.Gly12Asp) KRAS mutation in the pigmented verrucous epidermal nevus tissue, the intraneural schwann cells and the lipoma. The c.35G > A (p.Gly12Asp) KRAS mutation was absent in the peripheral blood leukocytes. We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma in this individual were caused by a postzygotic and mosaic activating c.35G > A (p.Gly12Asp) KRAS mutation. |
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 States | 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 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 30 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 17% |
| Student > Bachelor | 5 | 17% |
| Student > Postgraduate | 5 | 17% |
| Other | 3 | 10% |
| Student > Master | 3 | 10% |
| Other | 4 | 13% |
| Unknown | 5 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 33% |
| Biochemistry, Genetics and Molecular Biology | 6 | 20% |
| Neuroscience | 4 | 13% |
| Agricultural and Biological Sciences | 3 | 10% |
| Unspecified | 2 | 7% |
| Other | 0 | 0% |
| Unknown | 5 | 17% |
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 July 2015.
All research outputs
#22,759,452
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#314,174
of 366,748 outputs
Outputs of similar age from BMC Medical Genomics
#31
of 35 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% 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 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 35 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.