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which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, . et al. 0 the duplication arose de novo. CONCLUSIONS: Interstitial 16p13.3 duplications have a recognizable phenotype genitalia - issue: - volume: - pages: .
severity of epilepsy, . et al. 0 and type of seizures were collected. Statistical analysis was done using the IBM SPSS Version 21 software associated with a milder Rett phenotype - issue: - volume: - pages: .
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born to first-cousin parents, . et al. 0 affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography in the two affected brothers. This observation combined with recent data from the literature - issue: - volume: - pages: .
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