Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation
Authors:
- Steven MummSMSteven Mumm
- Gary S. GottesmanGGGary S. Gottesman
- Deborah WenkertDWDeborah Wenkert
- Philippe M. CampeauPhilippe M. Campeau
- Angela NenningerANAngela Nenninger
- Margaret HuskeyMHMargaret Huskey
- Vinieth N. BijankiVBVinieth N. Bijanki
- Deborah J. VeisDVDeborah J. Veis
- Aileen M. BarnesABAileen M. Barnes
- Joan C. MariniJMJoan C. Marini
- Marina StolinaMSMarina Stolina
- Fan ZhangFZFan Zhang
Abstract
No abstract availableKeywords
Funding Information
- Foundation for Barnes-Jewish Hospital
- Shriners Hospitals for Children
- National Institute of Child Health and Human Development
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