Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center

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作者： Strongin, Anna ^[1] ; Heller, Theo ^[2] ; Doherty, Dan ^[3] ; Glass, Ian A. ^[4] ; Parisi, Melissa A. ^[5] ; Bryant, Joy ^[6] ; Choyke, Peter ^[7] ; Turkbey, Baris ^[8] ; Daryanani, Kailash ; Yildirimli, Deniz ; Vemulapalli, Meghana ; Mullikin, Jim C. ; Malicdan, May C. ; Vilboux, Thierry ; Gahl, William A. ; Gunay-Aygun, Meral

作者单位： Univ Washington, Dept Pediat, Seattle, WA 98195 USA ^[1] NCI, Mol Imaging Program, Bethesda, MD 20892 USA ^[2] NHGRI, NISC, Bethesda, MD 20892 USA ^[3] NIDDK, Digest Dis Branch, Bethesda, MD 20892 USA ^[4] NHGRI, Med Genet Branch, Bethesda, MD 20892 USA ^[5] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA ^[6] NHGRI, Radiol & Imaging Sci, Ctr Clin, Bethesda, MD 20892 USA ^[7] NIDDK, Translat Hepatol Sect, Bethesda, MD USA ^[8]

关键词 ciliopathy COACH syndrome congenital hepatic fibrosis Joubert syndrome portal hypertension

发布时间 2018-11-21

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