The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation

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Boram Kim (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
Yo Han Ahn (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
Jae Hyeon Park (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
Han Sol Lim (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
Seung Won Chae (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
Jee-Soo Lee (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
Hee Gyung Kang (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
Man Jin Kim (Department of Genomic Medicine, Seoul National University Hospital) ;
Moon-Woo Seong (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine)

This study was supported by a grant (6500-6534-306) from the Korea Disease Control and Prevention Agency.

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