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; Gen Nishimura; Toshiro Nagai; Hideaki Sawai; Mayumi Yoshikata; Shinichirou Miyagawa; Takushi Hanita; Seiji Sato; Tomonobu Hasegawa; Shumpei Ishikawa; Tsutomu Ogata

doi:10.1002/ajmg.a.33107

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, Gen Nishimura, Toshiro Nagai, Hideaki Sawai, Mayumi Yoshikata, Shinichirou Miyagawa, Takushi Hanita, Seiji Sato, Tomonobu Hasegawa, Shumpei Ishikawa, Tsutomu Ogata

Department of Pediatrics

Research output: Contribution to journal › Letter › peer-review

17 Citations (Scopus)

Original language	English
Pages (from-to)	2882-2885
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	149
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.33107
Publication status	Published - 2009 Dec

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.33107

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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. American Journal of Medical Genetics, Part A, 149(12), 2882-2885. https://doi.org/10.1002/ajmg.a.33107

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. / Wada, Yuka; Nishimura, Gen; Nagai, Toshiro et al.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 12, 12.2009, p. 2882-2885.

Research output: Contribution to journal › Letter › peer-review

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', American Journal of Medical Genetics, Part A, vol. 149, no. 12, pp. 2882-2885. https://doi.org/10.1002/ajmg.a.33107

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Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

ASJC Scopus subject areas

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