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：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：2375 / 2376
页数：1
相关论文
共 25 条
  • [1] Seeman T(2009)Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings Pediatr Nephrol 24 1409-1412
  • [2] Malíková M(2009)Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) J Med Genet 46 663-670
  • [3] Bláhová K(2009)Nephronophthisis: disease mechanisms of a ciliopathy J Am Soc Nephrol 20 23-35
  • [4] Seemanová E(1998)Glomerulocystic disease with hepatoblastoma in a neonate: a case report Pediatr Radiol 28 703-705
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