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Heterozygous nonsense mutations near the C‐terminal region of IGF1R in two patients with small‐for‐gestational‐age‐related short stature
Authors:Masanobu Fujimoto  Yuki Kawashima Sonoyama  Naoki Hamajima  Takashi Hamajima  Yumiko Kumura  Naoki Miyahara  Rei Nishimura  Kaori Adachi  Eiji Nanba  Keiichi Hanaki  Susumu Kanzaki
Affiliation:1. Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago, Japan;2. Department of Pediatrics, Nagoya City West Medical Center, Nagoya, Japan;3. Department of Pediatric Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Obu, Japan;4. Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan;5. Department of Women's & Children's Family Nursing, Tottori University Faculty of Medicine, Yonago, Japan
Abstract:
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