Mutation analysis of <i>SOX9</i> and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia
Yuka Wada(National Center For Child Health and Development), Tsutomu Ogata(Hamamatsu University School of Medicine), Gen Nishimura(Musashino University), Shumpei Ishikawa(The University of Tokyo), Takushi Hanita(Tohoku University Hospital), Hideaki Sawai(Kyoto University), Tomonobu Hasegawa(Keio University), Toshiro Nagai, Shinichirou Miyagawa(National Hospital Organization), Seiji Sato(Shizuoka University), Mayumi Yoshikata(Boston Children's Hospital)
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