Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98
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DOI: 10.1159/000479463
Abstract: A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy… read more here.
Keywords: balanced translocation; renal aml; translocation; disrupting nup98 ... See more keywords