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Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM...

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Detalles Bibliográficos
Autores principales: Folgori, Laura, Scarselli, Alessia, Angelino, Giulia, Ferrari, Francesca, Antoccia, Antonio, Chessa, Luciana, Finocchi, Andrea
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2857855/
https://www.ncbi.nlm.nih.gov/pubmed/20380744
http://dx.doi.org/10.1186/1824-7288-36-29