Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/19158| Title: | DiGeorge phenotype in the absence of 22q11 deletion : a case report |
| Authors: | Taliana, Nikita Said, Edith Grech, Victor E. |
| Keywords: | Phenotype Developmental genetics Developmental disabilities DiGeorge syndrome |
| Issue Date: | 2017 |
| Publisher: | Images in Paediatric Cardiology |
| Citation: | Taliana, N., Said, E., & Grech, V. (2017). DiGeorge phenotype in the absence of 22q11 deletion : a case report. Images in Paediatric Cardiology, 19(1), 7-8. |
| Abstract: | DiGeorge syndrome is polytopic developmental field defect which is usually associated with 22q11.2 microdeletion. However, this phenotype may be caused by other conditions. We report such a case and briefly review these alternative causes for this particular phenotype. |
| URI: | https://www.um.edu.mt/library/oar//handle/123456789/19158 |
| Appears in Collections: | IPC, Volume 19, Issue 1 IPC, Volume 19, Issue 1 Scholarly Works - FacM&SAna Scholarly Works - FacM&SPae |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| IPC 19-1 - A2.pdf | DiGeorge phenotype in the absence of 22q11 deletion : a case report | 299.61 kB | Adobe PDF | View/Open |
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