SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

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Published in Nat Genet on May 16, 2016

Authors

Satoshi Narumi1, Naoko Amano1, Tomohiro Ishii1, Noriyuki Katsumata2, Koji Muroya3, Masanori Adachi3, Katsuaki Toyoshima4, Yukichi Tanaka5, Ryuji Fukuzawa6, Kenichi Miyako7, Saori Kinjo8, Shouichi Ohga9,10, Kenji Ihara9, Hirosuke Inoue9, Tadamune Kinjo9, Toshiro Hara9, Miyuki Kohno11, Shiro Yamada11, Hironaka Urano12, Yosuke Kitagawa13, Koji Tsugawa14, Asumi Higa15, Masakazu Miyawaki15, Takahiro Okutani15, Zenro Kizaki16, Hiroyuki Hamada16, Minako Kihara17, Kentaro Shiga18, Tetsuya Yamaguchi18, Manabu Kenmochi19, Hiroyuki Kitajima20, Maki Fukami2, Atsushi Shimizu21, Jun Kudoh22, Shinsuke Shibata23,24, Hideyuki Okano23, Noriko Miyake25, Naomichi Matsumoto25, Tomonobu Hasegawa1

Author Affiliations

1: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
2: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
3: Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
4: Department of Neonatology, Kanagawa Children's Medical Center, Yokohama, Japan.
5: Division of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.
6: Department of Pathology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
7: Department of Endocrinology and Metabolism, Fukuoka Children's Hospital and Medical Center for Infectious Diseases, Fukuoka, Japan.
8: Division of Pediatrics, Okinawa Prefectural Chubu Hospital, Okinawa, Japan.
9: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
10: Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
11: Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
12: Division of Neonatology, Gunma Children's Medical Center, Gunma, Japan.
13: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Aomori, Japan.
14: Department of Pediatrics, Ohdate Municipal Hospital, Ohdate, Japan.
15: Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
16: Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
17: Department of Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
18: Department of Pediatrics, Children's Medical Center, Yokohama City University Medical Center, Yokohama, Japan.
19: Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan.
20: Department of Neonatal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
21: Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan.
22: Laboratory of Gene Medicine, Keio University School of Medicine, Tokyo, Japan.
23: Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
24: Electron Microscope Laboratory, Keio University School of Medicine, Tokyo, Japan.
25: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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