Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita

BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia characterized by abnormal epiphyses, short stature, and flattened vertebral bodies. We investigate the phenotypes and the disease‐associated variants of SEDC in two unrelated Chinese families. M...

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Detalles Bibliográficos
Autores principales: Zheng, Wen‐bin, Li, Lu‐jiao, Zhao, Di‐chen, Wang, Ou, Jiang, Yan, Xia, Wei‐bo, Xing, Xiao‐ping, Li, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057085/
https://www.ncbi.nlm.nih.gov/pubmed/31972903
http://dx.doi.org/10.1002/mgg3.1139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057085/
https://www.ncbi.nlm.nih.gov/pubmed/31972903
http://dx.doi.org/10.1002/mgg3.1139

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