Joubert综合征一例中的颅颈交界区异常。 - Suppr

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Craniovertebral junction abnormality in a case of Joubert syndrome.

作者信息

Vogel Timothy W, Dlouhy Brian J, Menezes Arnold H

机构信息

Department of Neurosurgery, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

出版信息

Childs Nerv Syst. 2012 Jul;28(7):1109-12. doi: 10.1007/s00381-012-1682-3. Epub 2012 Jan 10.

DOI:10.1007/s00381-012-1682-3

PMID:22231569

Abstract

摘要

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Remnants of occipital vertebrae: proatlas segmentation abnormalities.

Neurosurgery. 2009 May;64(5):945-53; discussion 954. doi: 10.1227/01.NEU.0000345737.56767.B8.

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

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Anatomy and biomechanics of normal craniovertebral junction (a) and biomechanics of stabilization (b).

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相似文献

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Molar tooth sign is not pathognomonic for Joubert syndrome.

Pediatr Neurol. 2013 Dec;49(6):515-6. doi: 10.1016/j.pediatrneurol.2013.08.013. Epub 2013 Oct 10.

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Joubert syndrome overlapping with Dandy-Walker malformation.

Genet Couns. 2014;25(1):75-6.

Optic disc drusen mimicking papilledema in an infant with Joubert syndrome.

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本文引用的文献

Inherited cerebrorenal syndromes.

Nat Rev Nephrol. 2009 Sep;5(9):529-38. doi: 10.1038/nrneph.2009.124.

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

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Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Hum Mol Genet. 2008 Dec 1;17(23):3796-805. doi: 10.1093/hmg/ddn277. Epub 2008 Sep 4.

Cerebellar development and disease.

Curr Opin Neurobiol. 2008 Feb;18(1):12-9. doi: 10.1016/j.conb.2008.05.010. Epub 2008 May 29.

Anatomy and biomechanics of normal craniovertebral junction (a) and biomechanics of stabilization (b).

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Dev Biol. 2008 May 1;317(1):246-59. doi: 10.1016/j.ydbio.2008.02.026. Epub 2008 Mar 4.

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