KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

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• 作者：Anna A. W. M. Sanders ; Erik de Vrieze ; Anas M. Alazami ; Fatema Alzahrani…
• 关键词：Joubert syndrome ; Cilia ; KIAA0556 ; K04F10.2 ; Microtubule ; Katanin ; Basal body
• 刊名：Genome Biology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：16
• 期：1
• 全文大小：4,160 KB
• 刊物主题：Animal Genetics and Genomics; Human Genetics; Plant Genetics & Genomics; Microbial Genetics and Genomics; Fungus Genetics; Bioinformatics;
• 出版者：BioMed Central
• ISSN：1465-6906

文摘

Background Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures.