Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia
2009; Wiley; Volume: 149A; Issue: 12 Linguagem: Inglês
10.1002/ajmg.a.33107
ISSN1552-4833
AutoresYuka Wada, Gen Nishimura, Toshiro Nagai, Hideaki Sawai, Mayumi Yoshikata, Shinichirou Miyagawa, Takushi Hanita, Seiji Sato, Tomonobu Hasegawa, Shumpei Ishikawa, Tsutomu Ogata,
Tópico(s)Congenital limb and hand anomalies
ResumoAmerican Journal of Medical Genetics Part AVolume 149A, Issue 12 p. 2882-2885 Research Letter Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia† Yuka Wada, Corresponding Author Yuka Wada [email protected] Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanDepartment of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.Search for more papers by this authorGen Nishimura, Gen Nishimura Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, JapanSearch for more papers by this authorToshiro Nagai, Toshiro Nagai Department of Pediatrics, Dokkyo Medical University, Koshigaya, JapanSearch for more papers by this authorHideaki Sawai, Hideaki Sawai Genetic Counseling and Clinical Research Unit, Kyoto University, Kyoto, JapanSearch for more papers by this authorMayumi Yoshikata, Mayumi Yoshikata Department of Neonatology, Hyogo Children's Hospital, Kobe, JapanSearch for more papers by this authorShinichirou Miyagawa, Shinichirou Miyagawa Department of Pediatrics, National Hospital Organization Kure Medical Center, Kure, JapanSearch for more papers by this authorTakushi Hanita, Takushi Hanita Department of Pediatrics, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this authorSeiji Sato, Seiji Sato Department of Pediatrics, Saitama City Hospital, Saitama, JapanSearch for more papers by this authorTomonobu Hasegawa, Tomonobu Hasegawa Department of Pediatrics, School of Medicine, Keio University, Tokyo, JapanSearch for more papers by this authorShumpei Ishikawa, Shumpei Ishikawa Genome Science Division, Department of Pathology, Research Center for Advanced Science and Technology, Graduate School of Medicine, University of Tokyo, Tokyo, JapanSearch for more papers by this authorTsutomu Ogata, Tsutomu Ogata Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanSearch for more papers by this author Yuka Wada, Corresponding Author Yuka Wada [email protected] Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanDepartment of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.Search for more papers by this authorGen Nishimura, Gen Nishimura Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, JapanSearch for more papers by this authorToshiro Nagai, Toshiro Nagai Department of Pediatrics, Dokkyo Medical University, Koshigaya, JapanSearch for more papers by this authorHideaki Sawai, Hideaki Sawai Genetic Counseling and Clinical Research Unit, Kyoto University, Kyoto, JapanSearch for more papers by this authorMayumi Yoshikata, Mayumi Yoshikata Department of Neonatology, Hyogo Children's Hospital, Kobe, JapanSearch for more papers by this authorShinichirou Miyagawa, Shinichirou Miyagawa Department of Pediatrics, National Hospital Organization Kure Medical Center, Kure, JapanSearch for more papers by this authorTakushi Hanita, Takushi Hanita Department of Pediatrics, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this authorSeiji Sato, Seiji Sato Department of Pediatrics, Saitama City Hospital, Saitama, JapanSearch for more papers by this authorTomonobu Hasegawa, Tomonobu Hasegawa Department of Pediatrics, School of Medicine, Keio University, Tokyo, JapanSearch for more papers by this authorShumpei Ishikawa, Shumpei Ishikawa Genome Science Division, Department of Pathology, Research Center for Advanced Science and Technology, Graduate School of Medicine, University of Tokyo, Tokyo, JapanSearch for more papers by this authorTsutomu Ogata, Tsutomu Ogata Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, JapanSearch for more papers by this author First published: 16 November 2009 https://doi.org/10.1002/ajmg.a.33107Citations: 17 † How to Cite this Article: Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T. 2009. Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. Am J Med Genet Part A 149A:2882–2885. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Cameron FJ, Sinclair AH. 1997. Mutation in SRY and SO X9: Testis-determining genes. Hum Mutat 9: 388– 395. Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero MH, Shen F, Hung J, Arai H, Tanaka Y, Sasaki K, Kohno Y, Yamada M, Jones KW, Aburatani H, Miyashita T. 2007. 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