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A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome
Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. Immunodeficiency which includes both cellular and humoral arms has variable severity. Since the clinical presentation is extremely variable, a high clinical suspicion will allow an early diagnosis...
Autores principales: | Nespoli, Luigi, Verri, Annapia, Tajè, Silvia, Pellegrini, Francesco Paolo, Marinoni, Maddalena |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207493/ https://www.ncbi.nlm.nih.gov/pubmed/25374739 http://dx.doi.org/10.1155/2013/296827 |
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