Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
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DOI: 10.1111/cge.14303
Abstract: The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as the K/L mediated Xq28 duplication syndrome). We describe five… read more here.
Keywords: duplication syndrome; copy; mediated xq28; xq28 duplication ... See more keywords