| Autor: |
Samdani, Azam J., Azhar, Abid, Shahid, Syed M., Nawab, Syeda N., Shaikh, Rozeena, Qader, Shah A., Mansoor, Qaisar, Khoso, Bahram K., Ismail, Muhammad |
| Předmět: |
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| Zdroj: |
Journal of Dermatological Case Reports; 2010, Vol. 4 Issue 4, p66-70, 5p, 1 Color Photograph, 2 Diagrams, 1 Chart, 1 Graph |
| Abstrakt: |
The article presents a case study of two siblings in Pakistan who had lipoid proteinosis, with manifestations of scaly and itchy lesions on the whole body, hoarse voice and macroglossia. It says that their deceased father obtained the same condition. It notes the homozygous frameshift mutation of the ECM1 gene. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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