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Attention Score in Context
| Title |
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G
|
|---|---|
| Published in |
BMC Medical Genomics, September 2018
|
| DOI | 10.1186/s12881-018-0672-z |
| Pubmed ID | |
| Authors |
Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali, Mohammed A. AlBalwi |
| Abstract |
Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome. We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg. We also recruited one of the previously reported cases and found the same somatic mutation in the affected muscles. A wider classification of 'PIK3CA-related pathology spectrum' is presented which includes cancer, benign skin lesions/tumors, Cowden syndrome, isolated vascular malformations and various overgrowth syndromes. The latter entity is sub-divided into 3 sub-groups: overgrowth with brain involvement, overgrowth with multiple lipomatosis, and overgrowth without brain involvement/multiple lipomatosis. Our literature review indicated that "upper limb muscle overgrowth with hypoplasia of the index finger" is not as rare as previously thought to be. This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G. |
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 % |
|---|---|---|
| Portugal | 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 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 16 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 3 | 19% |
| Student > Ph. D. Student | 3 | 19% |
| Student > Doctoral Student | 1 | 6% |
| Student > Bachelor | 1 | 6% |
| Researcher | 1 | 6% |
| Other | 0 | 0% |
| Unknown | 7 | 44% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 31% |
| Biochemistry, Genetics and Molecular Biology | 2 | 13% |
| Chemistry | 1 | 6% |
| Arts and Humanities | 1 | 6% |
| Unknown | 7 | 44% |
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 06 September 2018.
All research outputs
#22,767,715
of 25,385,509 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#302,241
of 345,275 outputs
Outputs of similar age from BMC Medical Genomics
#41
of 59 outputs
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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 59 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.