MLL2 and KDM6A mutations in patients with Kabuki syndrome-Reference-Cited by-同舟云学术

MLL2 and KDM6A mutations in patients with Kabuki syndrome

Published:2013-08-02 Issue:9 Volume:161 Page:2234-2243
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Miyake Noriko¹,Koshimizu Eriko¹,Okamoto Nobuhiko²,Mizuno Seiji³,Ogata Tsutomu⁴,Nagai Toshiro⁵,Kosho Tomoki⁶,Ohashi Hirofumi⁷,Kato Mitsuhiro⁸,Sasaki Goro⁹,Mabe Hiroyo¹⁰,Watanabe Yoriko¹¹,Yoshino Makoto¹¹,Matsuishi Toyojiro¹¹,Takanashi Jun-Ichi¹²,Shotelersuk Vorasuk¹³,Tekin Mustafa¹⁴,Ochi Nobuhiko¹⁵,Kubota Masaya¹⁶,Ito Naoko¹⁷,Ihara Kenji¹⁷,Hara Toshiro¹⁷,Tonoki Hidefumi¹⁸,Ohta Tohru¹⁹,Saito Kayoko²⁰,Matsuo Mari²⁰,Urano Mari²⁰,Enokizono Takashi²¹,Sato Astushi²²,Tanaka Hiroyuki²³,Ogawa Atsushi²⁴,Fujita Takako²⁵,Hiraki Yoko²⁶,Kitanaka Sachiko²²,Matsubara Yoichi²⁷,Makita Toshio²⁸,Taguri Masataka²⁹,Nakashima Mitsuko¹,Tsurusaki Yoshinori¹,Saitsu Hirotomo¹,Yoshiura Ko-Ichiro³⁰,Matsumoto Naomichi¹,Niikawa Norio¹⁹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

2. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Japan

3. Department of Pediatrics; Central Hospital, Aichi Human Service Center; Kasugai Japan

4. Department of Pediatrics; Hamamatsu University School of Medicine; Hamamatsu Japan

5. Department of Pediatrics; Dokkyo Medical University Koshigaya Hospital; Saitama Japan

6. Department of Medical Genetics; Shinshu University School of Medicine; Matsumoto Japan

7. Division of Medical Genetics; Saitama Children's Medical Center; Iwatsuki Japan

8. Department of Pediatrics; Yamagata University Faculty of Medicine; Yamagata Japan

9. Department of Pediatrics; Tokyo Dental College Ichikawa General Hospital; Chiba Japan

10. Department of Child Development; Kumamoto University Hospital; Kumamoto Japan

11. Department of Pediatrics and Child Health; Kurume University School of Medicine; Kurume Japan

12. Department of Pediatrics; Kameda Medical Center; Kamogawa Chiba Japan

13. Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine; Chulalongkorn University; Bangkok Thailand

14. John P. Hussman Institute for Human Genomics, Miller School of Medicine; University of Miami; Miami Florida

15. Department of Pediatrics; Aichi Prefectural Hospital and Habilitation Center for Disabled Children, Dai-ni Aoitori Gakuen; Okazaki Japan

16. Division of Neurology; National Center for Child Health and Development; Tokyo Japan

17. Department of Pediatrics; Graduate School of Medical Sciences, Kyushu University; Fukuoka Japan

18. Section of Clinical Genetics, Department of Pediatrics; Tenshi Hospital; Sapporo Japan

19. Research Institute of Personalized Health Sciences; Health Science University of Hokkaido; Tobetsu Japan

20. Institute of Medical Genetics; Tokyo Women's Medical University; Tokyo Japan

21. Department of Pediatrics; University of Tsukuba Hospital; Tsukuba Japan

22. Department of Pediatrics; Graduate School of Medicine, The University of Tokyo; Tokyo Japan

23. Department of Pediatrics; Ohta Nishinouchi Hospital; Tokyo Japan

24. Department of Pediatrics; Chikushi Hospital, Fukuoka University; Fukuoka Japan

25. Department of Pediatrics; Fukuoka University School of Medicine; Fukuoka Japan

26. Hiroshima Municipal Center for Child Health and Development; Hiroshima Japan

27. Department of Medical Genetics; Tohoku University School of Medicine; Sendai Japan

28. Education Center; Asahikawa Medical University; Asahikawa Japan

29. Department of Biostatistics and Epidemiology; Yokohama City University Graduate School of Medicine; Yokohama Japan

30. Department of Human Genetics; Graduate School of Biomedical Sciences, Nagasaki University; Nagasaki Japan

Funder

Ministry of Health, Labour and Welfare of Japan

Japan Science and Technology Agency

Strategic Research Program for Brain Sciences

Ministry of Education, Culture, Sports, Science and Technology of Japan

Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science

Grant-in-Aid for Young Scientists from the Japan Society for the Promotion of Science

Takeda Science Foundation

Yokohama Foundation for the Advancement of Medical Science

Hayashi Memorial Foundation for Female Natural Scientists

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36072/fullpdf

Reference32 articles.

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3. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome;Banka;Clin Genet,2012a

4. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012b

5. Unmasking Kabuki syndrome;Bogershausen;Clin Genet,2013

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