Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

被引:0
作者
Tomáš Seeman
Eva Seemanová
Gudrun Nuernberg
Peter Nuernberg
Sabine Janssen
Edgar A. Otto
机构
[1] Charles University Prague,Department of Pediatrics, University Hospital Motol, Second Medical School
[2] Charles University Prague,Department of Clinical Genetics, Institute of Biology and Medical Genetics, University Hospital Motol, Second Medical School
[3] University of Cologne,Cologne Center for Genomics
[4] University of Michigan,Department of Pediatrics
来源
Pediatric Nephrology | 2010年 / 25卷
关键词
Liver Fibrosis; Hepatoblastoma; Single Nucleotide Polymorphism Array; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome;
D O I
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学科分类号
摘要
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页码:2375 / 2376
页数:1
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