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Published in 2021 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.1923038
Abstract: ABSTRACT Background: Retinoblastoma (Rb) is a childhood tumor of the developing retina where predisposition is caused by RB1 pathogenic variants. MYCN amplification (MYCNA ) has been implicated in around 2% of sporadic unilateral Rb tumors…
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Keywords:
pathogenic variants;
multiple ligation;
mycn amplification;
rb1 pathogenic ... See more keywords
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Published in 2021 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000370
Abstract: Chromosomal aberrations are an important cause of multiple malformation syndromes. Multiple ligation-dependent probe amplification (MLPA) a molecular cytogenetic technique has been suggested as a screening tool for the detection of chromosomal aberrations in resource-limited settings.…
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Keywords:
probe amplification;
children multiple;
congenital anomalies;
mlpa ... See more keywords