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De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

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author: Giuliana Giardino  Emilia Cirillo  Lucio Nitsch  Alfredo Brusco  Claudio Pignata 

Publication date August 17, 2012
Language English
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