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Attention Score in Context
| Title |
Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
|
|---|---|
| Published in |
Italian Journal of Pediatrics, September 2012
|
| DOI | 10.1186/1824-7288-38-48 |
| Pubmed ID | |
| Authors |
Donatella Capalbo, Maria Giuseppa Scala, Daniela Melis, Giorgia Minopoli, Nicola Improda, Loredana Palamaro, Claudio Pignata, Mariacarolina Salerno |
| Abstract |
ABSTRACT: Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity. Since only a few cases of NS/LAH associated to SHOC2 mutations have been so far described, the complex phenotype of the syndrome and the exact mechanism impairing GH/IGFI axis still remain to be elucidated and studies on larger cohort of subjects are needed to better delineate this syndrome. |
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 % |
|---|---|---|
| Unknown | 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 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 33 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 5 | 15% |
| Student > Ph. D. Student | 4 | 12% |
| Professor | 4 | 12% |
| Student > Master | 4 | 12% |
| Student > Bachelor | 3 | 9% |
| Other | 9 | 27% |
| Unknown | 4 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 39% |
| Biochemistry, Genetics and Molecular Biology | 4 | 12% |
| Psychology | 4 | 12% |
| Nursing and Health Professions | 2 | 6% |
| Agricultural and Biological Sciences | 1 | 3% |
| Other | 4 | 12% |
| Unknown | 5 | 15% |
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 27 September 2012.
All research outputs
#20,656,820
of 25,374,647 outputs
Outputs from Italian Journal of Pediatrics
#739
of 1,059 outputs
Outputs of similar age
#147,530
of 188,919 outputs
Outputs of similar age from Italian Journal of Pediatrics
#21
of 26 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,059 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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