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MOESM2 of A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

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posted on 2016-04-11, 05:00 authored by Machteld Oud, Carine Bonnard, Dorus Mans, Umut Altunoglu, Sumanty Tohari, Alvin Ng, Ascia Eskin, Hane Lee, C. Rupar, Nathalie Wagenaar, Ka Wu, Piya Lahiry, Gregory Pazour, Stanley Nelson, Robert Hegele, Ronald Roepman, HĂźlya Kayserili, Byrappa Venkatesh, Victoria Siu, Bruno Reversade, Heleen Arts
Additional file 2: Table S2. SPN genotypes flanking the p.G120C mutation present in the fetus and 13 unaffected relatives.

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