Clinical, Genetic and Orthopedic Characteristics of Desbuquois Dysplasia
Introduction. Desbuquois dysplasia is a rare skeletal dysplasia with an autosomal recessive inheritance, resembling to the group of multiple joint dislocations. The disease is caused by mutations in the CANT1 and XYLT1 genes, the protein products of which are involved in the degradation of proteogly...
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| Principais autores: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Russo |
| Publicado em: |
Vreden Russian Research Institute of Traumatology and Orthopedics
2021-10-01
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| coleção: | Travmatologiâ i Ortopediâ Rossii |
| Assuntos: | |
| Acesso em linha: | https://journal.rniito.org/jour/article/viewFile/1655/pdf |
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