A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage

To evaluate the clinical-phenotypic characteristics of Schmid metaphyseal chondrodysplasia (SMCD) inflicted by a novel missense mutation of COL10A1 gene: c.2020G > A; p.Gly674Arg. A female child aged about 3 yrs. and 8 months was subjected to Radiograph test to validate the symptoms of SMCD. The...

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Detalles Bibliográficos
Autores principales: Chen, Qiong, Wu, Sheng-Nan, Chen, Yong-Xing, C., Selvaa Kumar, Zhang, Lu, Wei, Hai-Yan, Kumar, Senthil Arun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950639/
https://www.ncbi.nlm.nih.gov/pubmed/31921940
http://dx.doi.org/10.1016/j.bonr.2019.100240

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950639/
https://www.ncbi.nlm.nih.gov/pubmed/31921940
http://dx.doi.org/10.1016/j.bonr.2019.100240

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