| Title |
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia
|
|---|---|
| Published in |
Pediatric Radiology, October 2004
|
| DOI | 10.1007/s00247-004-1323-4 |
| Pubmed ID | |
| Authors |
Ralph S. Lachman, Deborah Krakow, Daniel H. Cohn, David L. Rimoin |
| Abstract |
This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED with multilayered patella, brachydactyly, and clubbed feet resultant from mutations in gene defect diastrophic dysplasia (DTDST). The recently identified gene/molecular abnormalities in these disorders have made more exact identification possible in many cases, although clinical testing is not always available. However, there are specific radiographic findings that allow the accurate diagnosis to be made, thus potentially guiding which molecular defect(s) should be investigated. The modes of inheritance of these distinct MED conditions are not identical. When a specific diagnosis is made, proper genetic counseling as well as prognostication, management issues and complications can be delineated to the patient and family. This review will include the mechanics of diagnostic and molecular triage for these disorders. |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 22 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 32% |
| Student > Ph. D. Student | 5 | 23% |
| Other | 3 | 14% |
| Student > Doctoral Student | 1 | 5% |
| Lecturer | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 4 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 41% |
| Agricultural and Biological Sciences | 4 | 18% |
| Biochemistry, Genetics and Molecular Biology | 2 | 9% |
| Engineering | 2 | 9% |
| Unknown | 5 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 16 September 2019.
All research outputs
#7,453,479
of 22,786,691 outputs
Outputs from Pediatric Radiology
#646
of 2,078 outputs
Outputs of similar age
#20,145
of 62,289 outputs
Outputs of similar age from Pediatric Radiology
#3
of 11 outputs
Altmetric has tracked 22,786,691 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,078 research outputs from this source. They receive a mean Attention Score of 3.7. This one has gotten more attention than average, scoring higher than 53% of its peers.
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We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.