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Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome

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第一作者: Narumi,Y.
作者单位: Departments of Biomedical Sciences, Seoul National University, College of Medicine, Seoul, South [1] Department of Internal Medicine, Endocrine Research Institute, Yonsei University College of [2] Department of Orthopedics, Shinshu University, School of Medicine, Matsumoto, Japan [3] Division of Endocrinology, Chiba Children's Hospital, Chiba, Japan [4] Department of Radiology, Ajou University, School of Medicine, Suwon, South Korea [5] Department of Medical Genetics, Shinshu University, School of Medicine, Matsumoto, Japan [6] Department of Endocrinology and Metabolism, Ajou University, School of Medicine, Suwon, South Korea [7] Division of Medical Genetics, Gunma Children's Medical Center, Shibukawa, Japan [8] Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan [9] Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan [10]
发布时间 2013-11-20
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American journal of medical genetics, Part A

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