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 A. Oram,
Koumudi Godbole,
Chittaranjan S. Yajnik,
Paolo Sbraccia,
Giuseppe Novelli,
Nature Genetics · 2013 · 185 citations · 26 references