| Autor: |
K W, Gripp, D M, McDonald-McGinn, D A, Driscoll, L A, Reed, B S, Emanuel, E H, Zackai |
| Rok vydání: |
1997 |
| Předmět: |
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| Zdroj: |
American journal of medical genetics. 69(3) |
| ISSN: |
0148-7299 |
| Popis: |
The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion syndrome, and should not be confused with the more severe nasal abnormalities seen in frontonasal dysplasia. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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