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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...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2010
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| 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 |