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Research Letter

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation†‡

  1. Takahiro Yamada1,*,
  2. Masaki Takagi2,
  3. Gen Nishimura3,
  4. Rina Akaishi1,
  5. Itsuko Furuta1,
  6. Mamoru Morikawa1,
  7. Takashi Yamada1,
  8. Kazutoshi Cho1,
  9. Hideaki Sawai4,
  10. Shiro Ikegawa5,
  11. Tomonobu Hasegawa2,
  12. Hisanori Minakami1

Article first published online: 17 SEP 2012

DOI: 10.1002/ajmg.a.35602

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES

Volume 158A, Issue 11, pages 2969–2971, November 2012

Additional Information

How to Cite

Yamada, T., Takagi, M., Nishimura, G., Akaishi, R., Furuta, I., Morikawa, M., Yamada, T., Cho, K., Sawai, H., Ikegawa, S., Hasegawa, T. and Minakami, H. (2012), Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation. Am. J. Med. Genet., 158A: 2969–2971. doi: 10.1002/ajmg.a.35602

Author Information

  1. 1

    Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan

  2. 2

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

  3. 3

    Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan

  4. 4

    Department of Obstetrics and Gynecology, Hyogo College of Medicine, Nishinomiya, Japan

  5. 5

    Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan

*Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.

  1. †

    How to Cite this Article: Yamada T, Takagi M, Nishimura G, Akaishi R, Furuta I, Morikawa M, Yamada T, Cho K, Sawai H, Ikegawa S, Hasegawa T, Minakami H. 2012. Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation. Am J Med Genet Part A 158A: 2969–2971.

  2. ‡

    Takahiro Yamada and Masaki Takagi contributed equally to this work.

Publication History

  1. Issue published online: 17 OCT 2012
  2. Article first published online: 17 SEP 2012
  3. Manuscript Accepted: 5 JUL 2012
  4. Manuscript Received: 4 MAY 2012

Funded by

  • Ministry of Health, Labour and Welfare of Japan. Grant Numbers: H23-Nanchi-Ippan-123, H22-Nanchi-Ippan-194, Jitsuyoka (Nanbyo)-Ippan-014 (23300102)

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