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 (Q58827694)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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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De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype (English)
Rosa Romano
Alfonso Romano
Anne Durandy
Rita Genesio
Eleonora Di Gregorio
Simona Cavalieri
Giovanna Abate
Luigi Del Vecchio
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