A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Cilia
Oud, Machteld M MM; Bonnard, Carine C; Mans, Dorus A DA; Altunoglu, Umut U; Tohari, Sumanty S; Ng, Alvin Yu Jin AYJ; Eskin, Ascia A; Lee, Hane H; Rupar, C Anthony CA; de Wagenaar, Nathalie P NP; Wu, Ka Man KM; Lahiry, Piya P; Pazour, Gregory J GJ; Nelson, Stanley F SF; Hegele, Robert A RA; Roepman, Ronald R; Kayserili, Hülya H; Venkatesh, Byrappa B; Siu, Victoria M VM; Reversade, Bruno B; Arts, Heleen H HH