✦ LIBER ✦
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
✍ Scribed by Emilia Cirillo; Rosa Romano; Alfonso Romano; Giuliana Giardino; Anne Durandy; Lucio Nitsch; Rita Genesio; Eleonora Di Gregorio; Simona Cavalieri; Giovanna Abate; Luigi Del Vecchio; Alfredo Brusco; Claudio Pignata
- Book ID
- 115549390
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 395 KB
- Volume
- 158A
- Category
- Article
- ISSN
- 1552-4825
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