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Mendeley readers
| Title |
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, June 2011
|
| DOI | 10.1186/1750-1172-6-37 |
| Pubmed ID | |
| Authors |
Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé, Ravi Savarirayan |
| Abstract |
The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK) and metatropic dysplasia (MD) are currently considered three distinct skeletal dysplasias with some shared clinical features, including short stature, platyspondyly, and progressive scoliosis. Recently, TRPV4 mutations have been found in patients diagnosed with these skeletal phenotypes. |
Mendeley readers
The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 2 | 4% |
| United States | 1 | 2% |
| Unknown | 45 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 6 | 13% |
| Student > Ph. D. Student | 6 | 13% |
| Researcher | 6 | 13% |
| Student > Master | 6 | 13% |
| Student > Bachelor | 4 | 8% |
| Other | 10 | 21% |
| Unknown | 10 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 16 | 33% |
| Agricultural and Biological Sciences | 9 | 19% |
| Biochemistry, Genetics and Molecular Biology | 8 | 17% |
| Engineering | 2 | 4% |
| Economics, Econometrics and Finance | 1 | 2% |
| Other | 2 | 4% |
| Unknown | 10 | 21% |