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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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Detalles Bibliográficos
Autores principales:	Laccetta, Gianluigi, Toschi, Benedetta, Fogli, Antonella, Bertini, Veronica, Valetto, Angelo, Consolini, Rita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4697090/ https://www.ncbi.nlm.nih.gov/pubmed/26793401 http://dx.doi.org/10.1155/2015/938074

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