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A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

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Description scientific article published on 27 January 2011
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author: Annachiara De Sandre-Giovannoli  Nicolas Levy  Caroline Rooryck 

Publication date January 27, 2011
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