Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particu...

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Detalles Bibliográficos
Autores principales: Colarusso, Gloria, Gambineri, Eleonora, Lapi, Elisabetta, Casini, Tommaso, Tucci, Fabio, Lippi, Francesca, Azzari, Chiara
Formato: Texto
Lenguaje:English
Publicado: PAGEPress Publications 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094001/
https://www.ncbi.nlm.nih.gov/pubmed/21589826
http://dx.doi.org/10.4081/pr.2010.e13

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