Research Article

Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula†‡§

  1. Maki Fukami1,*,
  2. Takayoshi Tsuchiya1,2,
  3. Shuji Takada3,
  4. Akiko Kanbara4,
  5. Hiroshi Asahara3,
  6. Arisa Igarashi3,
  7. Yasunori Kamiyama4,
  8. Gen Nishimura5,
  9. Tsutomu Ogata1,6

Article first published online: 23 APR 2012

DOI: 10.1002/ajmg.a.35308

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 158A, Issue 7, pages 1529–1534, July 2012

Additional Information

How to Cite

Fukami, M., Tsuchiya, T., Takada, S., Kanbara, A., Asahara, H., Igarashi, A., Kamiyama, Y., Nishimura, G. and Ogata, T. (2012), Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am. J. Med. Genet., 158A: 1529–1534. doi: 10.1002/ajmg.a.35308

Author Information

  1. 1

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

  2. 2

    Department of Pediatrics, Dokkyo Medical University, Koshigaya Hospital, Koshigaya, Japan

  3. 3

    Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan

  4. 4

    Department of Pediatrics, Saiseikai Utsunomiya Hospital, Utsunomiya, Japan

  5. 5

    Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan

  6. 6

    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan

*Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan.

  1. †

    How to Cite this Article: Fukami M, Tsuchiya T, Takada S, Kanbara A, Asahara H, Igarashi A, Kamiyama Y, Nishimura G, Ogata T. 2012. Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet Part A. 158A:1529–1534.

  2. ‡

    Maki Fukami, Takayoshi Tsuchiya, and Shuji Takada contributed equally to this work.

  3. §

    The authors have no conflict of interest.

Publication History

  1. Issue published online: 18 JUN 2012
  2. Article first published online: 23 APR 2012
  3. Manuscript Accepted: 3 FEB 2012
  4. Manuscript Received: 28 NOV 2011

Funded by

  • Ministry of Education, Culture, Sports, Science and Technology (MEXT). Grant Number: 22132004
  • Japan Society for the Promotion of Science (JSPS). Grant Number: 23390249
  • Ministry of Health, Labor and Welfare. Grant Numbers: 10103415, 11103332
  • National Center for Child Health and Development. Grant Number: 23A-1

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