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.
authors.affiliation: Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagaya, Tokyo 157-8535, Japan. ywada@nch.go.jp
authors.forename: Yuka
authors.initials: Y
authors.lastname: Wada
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Hideaki
authors.initials: H
authors.lastname: Sawai
authors.forename: Mayumi
authors.initials: M
authors.lastname: Yoshikata
authors.forename: Shinichirou
authors.initials: S
authors.lastname: Miyagawa
authors.forename: Takushi
authors.initials: T
authors.lastname: Hanita
authors.forename: Seiji
authors.initials: S
authors.lastname: Sato
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Shumpei
authors.initials: S
authors.lastname: Ishikawa
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Ogata
mesh_terms: D001483:Base Sequence; D055036:Campomelic Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011859:Radiography; D055758:SOX9 Transcription Factor / Q000235:genetics*
chemical_list: D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human