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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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Bibliografske podrobnosti
izdano v:Images Paediatr Cardiol
Main Authors: Taliana, N, Said, E, Grech, V
Format: Artigo
Jezik:Inglês
Izdano: Images in Paediatric Cardiology 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5917865/
https://ncbi.nlm.nih.gov/pubmed/29731782
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