WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
- 1 April 2013
- journal article
- case report
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 92 (4) , 590-597
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and ZebrafishThe American Journal of Human Genetics, 2012
- High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypesBone, 2011
- Mutations in SERPINF1 cause osteogenesis imperfecta type VIJournal of Bone and Mineral Research, 2011
- High Bone Density Due to a Mutation in LDL-Receptor–Related Protein 5New England Journal of Medicine, 2002
- Wnt Signaling Controls the Phosphorylation Status of β-CateninJournal of Biological Chemistry, 2002
- Reaching a Genetic and Molecular Understanding of Skeletal DevelopmentDevelopmental Cell, 2002
- A Mutation in the LDL Receptor–Related Protein 5 Gene Results in the Autosomal Dominant High–Bone-Mass TraitThe American Journal of Human Genetics, 2002
- LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye DevelopmentCell, 2001
- Swaying is a mutant allele of the proto-oncogene Wnt-1Cell, 1991
- The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brainCell, 1990