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Clinical and histological findings of autosomal dominant renal‐limited disease with LMX1B mutation
Authors:Takao Konomoto  Hideaki Imamura  Mayuko Orita  Etsuko Tanaka  Hiroshi Moritake  Yuji Sato  Shouichi Fujimoto  Yutaka Harita  Satoshi Hisano  Koh‐ichiro Yoshiura  Hiroyuki Nunoi
Affiliation:1. Division of Pediatrics, Department of Developmental and Urological‐Reproductive Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan;2. Department of Pediatrics, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan;3. Dialysis Division, University of Miyazaki Hospital, Miyazaki, Japan;4. Department of Haemovascular Medicine and Artificial Organs, University of Miyazaki, Miyazaki, Japan;5. Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan;6. Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan;7. Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
Abstract:
Keywords:autosomal dominant  LMX1B  nail‐patella syndrome  podocin  whole exome sequencing
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