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An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy Michael N Weedon, Sian Ellard, Marc J Prindle, Richard Caswell, Hana Lango Allen, Richard Oram, Koumudi Godbole, Chittaranjan S Yajnik, Paolo Sbraccia, Giuseppe Novelli, Peter Turnpenny, Emma McCann, Kim Jee Goh, Yukai Wang, Jonathan Fulford, Laura J McCulloch, David B Savage, Stephen O'Rahilly, Katarina Kos, Lawrence A Loeb, Robert K Semple & Andrew T Hattersley Nature Genetics 45, 947–950 (2013)