A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report

RATIONALE: Spondylometaphyseal dysplasia (SMD) is an extremely rare disorder of irregular development of spine and metaphyses of long tubular bones. Mutations in the collagen type X alpha 1 gene were found to underlie this condition. Previously reported mutations in the N-terminal non-collagenous NC...

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Detalles Bibliográficos
Autores principales: Zhang, Xianzuo, Liang, Haiyi, Liu, Weilu, Li, Xu, Zhang, Wenzhi, Shang, Xifu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708723/
https://www.ncbi.nlm.nih.gov/pubmed/31348255
http://dx.doi.org/10.1097/MD.0000000000016485

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