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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...

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Detalles Bibliográficos
Autores principales:	Zhou, Tangjun, Yang, Xiao, Chen, Zhiqian, Zhou, Yifan, Cao, Xiankun, Zhao, Changqing, Zhao, Jie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059726/ https://www.ncbi.nlm.nih.gov/pubmed/33590889 http://dx.doi.org/10.1002/jcla.23728

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