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
Y
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
Nishimura
Gen
G
Nagai
Toshiro
T
Sawai
Hideaki
H
Yoshikata
Mayumi
M
Miyagawa
Shinichirou
S
Hanita
Takushi
T
Sato
Seiji
S
Hasegawa
Tomonobu
T
Ishikawa
Shumpei
S
Ogata
Tsutomu
T
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*
D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human