Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?

We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild skeletal anomalies, and facial dysmorphisms are...

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Vydáno v:Case Rep Pediatr
Hlavní autoři: Laccetta, Gianluigi, Toschi, Benedetta, Fogli, Antonella, Bertini, Veronica, Valetto, Angelo, Consolini, Rita
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4697090/
https://ncbi.nlm.nih.gov/pubmed/26793401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/938074
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