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

Am J Med Genet A. 2009 Dec;149A(12):2882-5. doi: 10.1002/ajmg.a.33107.

Authors

Yuka Wada¹, Gen Nishimura, Toshiro Nagai, Hideaki Sawai, Mayumi Yoshikata, Shinichirou Miyagawa, Takushi Hanita, Seiji Sato, Tomonobu Hasegawa, Shumpei Ishikawa, Tsutomu Ogata

Affiliation

¹ 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

PMID: 19921652
DOI: 10.1002/ajmg.a.33107

No abstract available

MeSH terms

Base Sequence
Campomelic Dysplasia / diagnostic imaging
Campomelic Dysplasia / genetics*
DNA Copy Number Variations / genetics*
DNA Mutational Analysis
Female
Humans
Infant
Male
Molecular Sequence Data
Mutation / genetics*
Radiography
SOX9 Transcription Factor / genetics*

Substances

SOX9 Transcription Factor
SOX9 protein, human