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Can I read New case of Cole-Carpenter syndrome on EtoBox?
New case of Cole-Carpenter syndrome by Amor, David J.; Savarirayan, Ravi; Schneider, Adele S.; Bankier, Agnes is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is New case of Cole-Carpenter syndrome about?
We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.
Who reads New case of Cole-Carpenter syndrome?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Amor, David J.; Savarirayan, Ravi; Schneider, Adele S.; Bankier, Agnes
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 2000
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)