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X Demographics
Mendeley readers
Attention Score in Context
| Title |
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, July 2016
|
| DOI | 10.1186/s13023-016-0465-4 |
| Pubmed ID | |
| Authors |
Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong, Xiaoman Wang |
| Abstract |
Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations. A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient. We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects. |
X Demographics
The data shown below were collected from the profiles of 4 X users 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 | 25% |
| Spain | 1 | 25% |
| Unknown | 2 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 50% |
| Science communicators (journalists, bloggers, editors) | 1 | 25% |
| Scientists | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Pakistan | 1 | 5% |
| Unknown | 19 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 4 | 20% |
| Student > Ph. D. Student | 4 | 20% |
| Student > Master | 3 | 15% |
| Professor | 2 | 10% |
| Other | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 5 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 7 | 35% |
| Medicine and Dentistry | 3 | 15% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 10% |
| Psychology | 1 | 5% |
| Agricultural and Biological Sciences | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 6 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 July 2016.
All research outputs
#15,169,949
of 25,374,917 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,587
of 3,105 outputs
Outputs of similar age
#200,625
of 366,069 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#32
of 50 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one is in the 46th percentile – i.e., 46% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 366,069 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 50 others from the same source and published within six weeks on either side of this one. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.