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A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
BACKGROUND: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and/or retina...
Gardado en:
| Publicado en: | J Clin Lab Anal |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8059726/ https://ncbi.nlm.nih.gov/pubmed/33590889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23728 |
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