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

• Main Authors: Oud, M.M, Bonnard, C, Mans, D.A, Altunoglu, U, Tohari, S, Ng, A.Y.J, Eskin, A, Lee, H, Rupar, C.A, Wagenaar, N.P, Wu, K.M, Lahiry, P, Pazour, G.J, Nelson, S.F, Hegele, R.A, Roepman, R, Kayserili, H, Venkatesh, B, Siu, V.M, Reversade, B, Arts, H.H
• Other Authors: PAEDIATRICS
• Format: Article
• Published: 2020
• Subjects: intestinal cell kinase; protein kinase; unclassified drug; animal cell; Article; axoneme; bone dysplasia; brain disease; case report; cell disruption; controlled study; endocrine cerebroosteodysplasia syndrome; endocrine disease; eukaryotic flagellum; fetus; gene; gene mapping; gene mutation; gene sequence; homozygosity; human; human cell; ICK gene; immunocytochemistry; in vitro study; mouse; nonhuman; priority journal; protein localization
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/178928
• Institution: National University of Singapore

10.1186/s13630-016-0029-1