Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation
| Autor: | Rolf E. Brenner, Heiko Reichel, Manfred Nelitz, Julia V. Woelfle, B. Zabel |
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| Rok vydání: | 2011 |
| Předmět: |
musculoskeletal diseases
Genetics congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Metaphyseal chondrodysplasia business.industry Nonsense mutation musculoskeletal system Rheumatology Human skeleton medicine.anatomical_structure Internal medicine Mutation (genetic algorithm) Collagen type X medicine Orthopedics and Sports Medicine Surgery sense organs business |
| Zdroj: | Journal of Orthopaedic Science. 16:245-249 |
| ISSN: | 0949-2658 |
| DOI: | 10.1007/s00776-011-0021-y |
| Popis: | Metaphyseal chondrodysplasia represents a complex challenge for the orthopaedic surgeon as it potentially affects all long bones of the growing human skeleton. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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