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Acampomelic Form of Campomelic Dysplasia withSOX9Missense Mutation

✍ Scribed by Hariharan Gopakumar, Andrea Superti-Furga, Sheila Unger…

Book ID
120902684
Publisher
Springer-Verlag
Year
2013
Tongue
English
Weight
107 KB
Volume
81
Category
Article
ISSN
0019-5456

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✍ Alex Staffler; Markus Hammel; Mandy Wahlbuhl; Christoph Bidlingmaier; Andreas W. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 416 KB 👁 1 views

Campomelic dysplasia is a malformation syndrome with multiple symptoms including characteristic shortness and bowing of the long bones (campomelia). CD, often lethal due to airway malformations, is caused by heterozygous mutations in SOX9, an SRY-related gene regulating testis and chondrocyte develo