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

10.1186/s13630-016-0029-1

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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

id	sg-nus-scholar.10635-178928
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spelling	sg-nus-scholar.10635-1789282024-04-24T06:50:43Z A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome 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 PAEDIATRICS 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 10.1186/s13630-016-0029-1 Cilia 5 1 8 2020-10-22T03:03:30Z 2020-10-22T03:03:30Z 2016 Article 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 (2016). A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Cilia 5 (1) : 8. ScholarBank@NUS Repository. https://doi.org/10.1186/s13630-016-0029-1 20462530 https://scholarbank.nus.edu.sg/handle/10635/178928 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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
spellingShingle	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 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 A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
description	10.1186/s13630-016-0029-1
author2	PAEDIATRICS
author_facet	PAEDIATRICS 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
format	Article
author	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
author_sort	Oud, M.M
title	A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
title_short	A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
title_full	A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
title_fullStr	A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
title_full_unstemmed	A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
title_sort	novel ick mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/178928
_version_	1800914530463645696

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

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