雷恩综合征 - Suppr

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超能文献

Raine syndrome.

作者信息

Rejjal A

出版信息

Am J Med Genet. 1998 Jul 24;78(4):382-5. doi: 10.1002/(sici)1096-8628(19980724)78:4<382::aid-ajmg17>3.0.co;2-e.

DOI:10.1002/(sici)1096-8628(19980724)78:4<382::aid-ajmg17>3.0.co;2-e

PMID:9714445

Abstract

摘要

相似文献

Raine syndrome.雷恩综合征

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引用本文的文献

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.突变型Fam20c基因敲入小鼠再现了致死性和非致死性人类雷恩综合征。

BMC Mol Cell Biol. 2025 Jan 2;26(1):1. doi: 10.1186/s12860-024-00526-4.

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.FAM20C 概述：经典和新型靶标、致病性变异和 Raine 综合征表型。

Int J Mol Sci. 2021 Jul 27;22(15):8039. doi: 10.3390/ijms22158039.

Two Novel Variants in A Family with Raine Syndrome.一家系中存在两种新型 Raine 综合征变异。

Genes (Basel). 2020 Feb 20;11(2):222. doi: 10.3390/genes11020222.

A case of Raine syndrome presenting with facial dysmorphy and review of literature.一例表现为面部畸形的雷恩综合征病例及文献综述。

BMC Med Genet. 2018 May 11;19(1):76. doi: 10.1186/s12881-018-0593-x.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.两个患有非致死性雷恩综合征且伴有FAM20C突变的家庭中全身及口腔牙齿表型的变异性

BMC Med Genet. 2015 Feb 21;16:8. doi: 10.1186/s12881-015-0154-5.

The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins.赖恩综合征蛋白 FAM20C 是一种高尔基激酶，可磷酸化生物矿化蛋白。

PLoS One. 2012;7(8):e42988. doi: 10.1371/journal.pone.0042988. Epub 2012 Aug 10.

Expression of FAM20C in the osteogenesis and odontogenesis of mouse.FAM20C 在小鼠成骨和牙发生中的表达。

J Histochem Cytochem. 2010 Nov;58(11):957-67. doi: 10.1369/jhc.2010.956565. Epub 2010 Jul 19.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.FAM20C基因的突变与致死性骨硬化性骨发育异常（雷恩综合征）相关，这凸显了一种在骨骼发育中起关键作用的分子。

Am J Hum Genet. 2007 Nov;81(5):906-12. doi: 10.1086/522240. Epub 2007 Sep 14.

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