A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1

Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue-gray eye sclera. OI is caused by a heterozygous mutation in collagen α-1(I) chain (COL1A1) or collagen α-2(I) chain (...

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Detalles Bibliográficos
Autores principales: Yang, Qi, Xu, Hong, Luo, Jinsi, Zhang, Qinle, Xie, Bobo, Yi, Sheng, Rong, Xiuliang, Wang, Jin, Qin, Zailong, Jiang, Tingting, Lin, Li, Zuo, Yangjin, Fan, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802218/
https://www.ncbi.nlm.nih.gov/pubmed/29344653
http://dx.doi.org/10.3892/mmr.2018.8436

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802218/
https://www.ncbi.nlm.nih.gov/pubmed/29344653
http://dx.doi.org/10.3892/mmr.2018.8436

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