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Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
Pediatric Blood & Cancer, 11/25/09
Roche A et al. – AR anomaly was detected, and a retinoblastoma was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, and intra–arterial chemotherapy were needed to control the RB. This is the first report of an association of AR, 13q deletion, and retinoblastoma, to be disclosed in patients born with such ocular and dysmorphic features.
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