Ciliopathies: the central role of cilia in a spectrum of pediatric disorders.
作者信息
Ferkol Thomas W, Leigh Margaret W
机构信息
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
出版信息
J Pediatr. 2012 Mar;160(3):366-71. doi: 10.1016/j.jpeds.2011.11.024. Epub 2011 Dec 16.
Abstract
摘要
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Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.神经系统中的纤毛：连接纤毛功能与神经发育障碍。
Curr Opin Neurol. 2011 Apr;24(2):98-105. doi: 10.1097/WCO.0b013e3283444d05.
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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.CEP290，一个“多面”的基因：突变概述和 CEP290base 的介绍。
Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337.
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Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.73 例常染色体隐性多囊肾病患者的肾功能、体积和影像学表现与 PKHD1 突变的相关性。
Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22.
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