Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature-Reference-Cited by-同舟云学术

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Published:2013-05-01 Issue:6 Volume:161 Page:1221-1237
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kosho Tomoki¹,Okamoto Nobuhiko²,Ohashi Hirofumi³,Tsurusaki Yoshinori⁴,Imai Yoko⁵,Hibi-Ko Yumiko⁵,Kawame Hiroshi,Homma Tomomi⁶,Tanabe Saori⁷,Kato Mitsuhiro⁸,Hiraki Yoko⁹,Yamagata Takanori¹⁰,Yano Shoji¹¹,Sakazume Satoru¹²,Ishii Takuma,Nagai Toshiro¹²,Ohta Tohru¹³,Niikawa Norio¹³,Mizuno Seiji¹⁴,Kaname Tadashi¹⁵,Naritomi Kenji¹⁵,Narumi Yoko¹,Wakui Keiko¹,Fukushima Yoshimitsu¹,Miyatake Satoko⁴,Mizuguchi Takeshi⁴,Saitsu Hirotomo⁴,Miyake Noriko⁴,Matsumoto Naomichi⁴

Affiliation:

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

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

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

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

5. Division of Pediatrics; Japanese Red Cross Medical Center; Tokyo; Japan

6. Division of Pediatrics; Yamagata Prefectural Shinjo Hospital; Shinjo; Japan

7. Division of Pediatrics; Yamagata Prefectural and Sakata Municipal Hospital Organization Nihon-Kai General Hospital; Sakata; Japan

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

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

10. Department of Pediatrics; Jichi Medical University; Shimotsuke; Japan

11. Genetics Division, Department of Pediatrics, LAC + USC Medical Center, Keck School of Medicine; University of Southern California; Los Angeles, California

12. Department of Pediatrics; Dokkyo Medical University Koshigaya Hospital; Koshigaya; Japan

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

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

15. Department of Medical Genetics, Faculty of Medicine; University of the Ryukyus; Nishihara; Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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5. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B;Halgren;Clin Genet,2012

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