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DiGeorge phenotype in the absence of 22q11 deletion – a case report
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.
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| Vydáno v: | Images Paediatr Cardiol |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Images in Paediatric Cardiology
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5917865/ https://ncbi.nlm.nih.gov/pubmed/29731782 |
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