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

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

10.1186/s13630-016-0029-1

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Bibliographic Details
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
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Institution:	National University of Singapore

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Summary:	10.1186/s13630-016-0029-1