Llwytho...

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.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Images Paediatr Cardiol
Prif Awduron: Taliana, N, Said, E, Grech, V
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Images in Paediatric Cardiology 2017
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5917865/
https://ncbi.nlm.nih.gov/pubmed/29731782
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