Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report

BACKGROUND: Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the glycine to bulky amino acid substitutions (e.g., glycine to serine) in the Gly-...

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Detalles Bibliográficos
Autores principales: Chen, Jing, Ma, Xiaomin, Zhou, Yulin, Li, Guimei, Guo, Qiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525314/
https://www.ncbi.nlm.nih.gov/pubmed/28738883
http://dx.doi.org/10.1186/s12887-017-0930-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525314/
https://www.ncbi.nlm.nih.gov/pubmed/28738883
http://dx.doi.org/10.1186/s12887-017-0930-9

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