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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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Detalhes bibliográficos
Main Authors: Colarusso, Gloria, Gambineri, Eleonora, Lapi, Elisabetta, Casini, Tommaso, Tucci, Fabio, Lippi, Francesca, Azzari, Chiara
Formato: Artigo
Idioma:Inglês
Publicado em: PAGEPress Publications 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3094001/
https://ncbi.nlm.nih.gov/pubmed/21589826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/pr.2010.e13
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