Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders
K. Hasselbacher1,2, R.C. Wiggins3, V. Matejas4, B.G. Hinkes1, B. Mucha1, B.E. Hoskins1, F. Ozaltin1,5, G. Nürnberg6, C. Becker6, D. Hangan1, M. Pohl7, E. Kuwertz-Bröking8, M. Griebel9, V. Schumacher10, B. Royer-Pokora10, A. Bakkaloglu5, P. Nürnberg6, M. Zenker4, F. Hildebrandt1
1Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
2Division of Nephrology, University of Erlangen-Nuremberg, Erlangen-Nuremberg, Germany
3Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA
4Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen-Nuremberg, Germany
5Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey
6Cologne Center for Genomics (CCG) and Institute for Genetics, University of Cologne, Cologne, Germany
7Department of Pediatric and Adolescent Medicine, University of Freiburg, Freiburg, Germany
8Department of Pediatric Nephrology, University of Muenster, Muenster, Germany
9Department of Pediatric Nephrology, Technical University of Munich, Munich, Germany
10Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany
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