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Mendeley readers
| Title |
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates
|
|---|---|
| Published in |
Birth Defects Research Part A Clinical and Molecular Teratology, September 2013
|
| DOI | 10.1002/bdra.23170 |
| Pubmed ID | |
| Authors |
Salma Ben‐Salem, Jozef Hertecant, Aisha M. Al‐Shamsi, Bassam R. Ali, Lihadh Al‐Gazali |
| Abstract |
Geleophysic dysplasia (GD) is an autosomal recessive disorder characterized by short stature, brachydactyly, stiff joints, thick skin, and cardiac valvular abnormalities that are often responsible for early death. Mutations in ADAMTSL2 and FBN1 genes have been shown to cause GD due to the dysregulation of transforming growth factor-β signaling pathways. Small numbers of mutations in ADAMTSL2 have been reported so far in patients with GD type 1 (GD1). |
Mendeley readers
The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 13 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 3 | 23% |
| Student > Doctoral Student | 3 | 23% |
| Researcher | 2 | 15% |
| Other | 1 | 8% |
| Student > Postgraduate | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 3 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 31% |
| Medicine and Dentistry | 3 | 23% |
| Sports and Recreations | 1 | 8% |
| Earth and Planetary Sciences | 1 | 8% |
| Unknown | 4 | 31% |