Spondyloepiphyseal dysplasia congenita with absent femoral head. [electronic resource]
Producer: 20040629Description: 63-9 p. digitalISSN:- 1060-152X
- Adolescent
- Adult
- Atlanto-Axial Joint
- Collagen Type II -- genetics
- DNA Mutational Analysis
- Femur Head -- abnormalities
- Hip Joint -- diagnostic imaging
- Humans
- Joint Instability -- genetics
- Male
- Mutation, Missense
- Osteochondrodysplasias -- diagnostic imaging
- Phenotype
- Sequence Analysis
- Tomography, X-Ray Computed
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Publication Type: Case Reports; Journal Article
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