Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. [electronic resource]
Producer: 20110203Description: 110 p. digitalISSN:- 1471-2474
- Adult
- Amino Acid Substitution -- genetics
- Anion Transport Proteins -- genetics
- Cysteine -- genetics
- Genes, Recessive -- genetics
- Genetic Predisposition to Disease -- genetics
- Genotype
- Homozygote
- Humans
- Knee Dislocation -- genetics
- Male
- Mutation -- genetics
- Orthopedic Procedures -- methods
- Osteochondrodysplasias -- diagnosis
- Patella -- abnormalities
- Phenotype
- Serine -- genetics
- Sulfate Transporters
- Treatment Outcome
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Publication Type: Case Reports; Journal Article
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