Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

Nathan O. Stitziel, Sigrid W. Fouchier, Barbara Sjouke, Gina M. Peloso, Alessa M. Moscoso, Paul L. Auer, Anuj Goel, Bruna Gigante, Timothy A. Barnes, Olle Melander, Marju Orho-Melander, Stefano Duga, Suthesh Sivapalaratnam, Majid Nikpay, Nicola Martinelli, Domenico Girelli, Rebecca D. Jackson, Charles Kooperberg, Leslie A. Lange, Diego ArdissinoRuth McPherson, Martin Farrall, Hugh Watkins, Muredach P. Reilly, Daniel J. Rader, Ulf De Faire, Heribert Schunkert, Jeanette Erdmann, Nilesh J. Samani, Lawrence Charnas, David Altshuler, Stacey Gabriel, John J P Kastelein, Joep C. Defesche, Aart J. Nederveen, Sekar Kathiresan, G. Kees Hovingh

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