Congenital spondyloepiphyseal dysplasia
Introduction: congenital spondyloepiphyseal dysplasia, a type of bone dysplasia manifest from the infancy stage, is caused by mutations in the COL2A1 gene, located on chromosome 12, causing defects in type II collagen, a major component of cartilage. This type of collagen is also found in the vitreo...
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| Format: | Article |
| Language: | Spanish |
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ECIMED
2017-12-01
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| Series: | Revista de Ciencias Médicas de Pinar del Río |
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| Online Access: | http://www.revcmpinar.sld.cu/index.php/publicaciones/article/view/3296 |