Lumbar Scheuermann’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report

BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90 % of OI cases are caused by type I collagen variants encoded by the collagen type I alpha 1 (COL1A1) or type...

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Detalles Bibliográficos
Autores principales: Wang, Shiwei, Wang, Xiaoli, Teng, Xiaochun, Li, Songbai, Zhang, Hanyi, Shan, Zhongyan, Li, Yushu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185920/
https://www.ncbi.nlm.nih.gov/pubmed/34098919
http://dx.doi.org/10.1186/s12891-021-04401-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185920/
https://www.ncbi.nlm.nih.gov/pubmed/34098919
http://dx.doi.org/10.1186/s12891-021-04401-7

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