Article
Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2013
Feldman George J, Parvizi Javad, Levenstien Mark, Scott Kathryn, Erickson Jill A, Fortina Paolo, Devoto Marcella, Peters Christopher L
Abstract excerpt
Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage resulting in arthritis. DDH affects 1 in 1000 newborns in the United States; there are well-defined "pockets" of high prevalence in Japan, and in Italy and other Mediterranean...
Topics
- Adolescent
- CX3C Chemokine Receptor 1
- Chromosome Mapping
- DNA
- Exome
- Family
- Female
- Genetic Linkage
- Genetic Predisposition to Disease
- Genetic Testing
- Hip Dislocation, Congenital
- Humans