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

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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

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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

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

author = "Yuka Wada and Gen Nishimura and Toshiro Nagai and Hideaki Sawai and Mayumi Yoshikata and Shinichirou Miyagawa and Takushi Hanita and Seiji Sato and Tomonobu Hasegawa and Shumpei Ishikawa and Tsutomu Ogata",

year = "2009",

month = dec,

doi = "10.1002/ajmg.a.33107",

language = "English",

volume = "149",

pages = "2882--2885",

journal = "American Journal of Medical Genetics, Part A",

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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, vol. 149, no. 12, pp. 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

TY - JOUR

T1 - Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

AU - Wada, Yuka

AU - Nishimura, Gen

AU - Nagai, Toshiro

AU - Sawai, Hideaki

AU - Yoshikata, Mayumi

AU - Miyagawa, Shinichirou

AU - Hanita, Takushi

AU - Sato, Seiji

AU - Hasegawa, Tomonobu

AU - Ishikawa, Shumpei

AU - Ogata, Tsutomu

PY - 2009/12

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U2 - 10.1002/ajmg.a.33107

DO - 10.1002/ajmg.a.33107

M3 - Letter

C2 - 19921652

AN - SCOPUS:71949122477

SN - 1552-4825

VL - 149

SP - 2882

EP - 2885

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 12

ER -

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

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