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Reply to Unger: The mildest form of campomelic dysplasia

✍ Scribed by Heather Stalker; Roberto Zori; Margaret Wallace; Kate Hill-Harfe; Lee Kaplan

Book ID
101446971
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
33 KB
Volume
132A
Category
Article
ISSN
1552-4825

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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