SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India

SERPINF1 gene variants lead to a severe type of osteogenesis imperfecta (OI) attributed to defects in the matrix mineralization. We present 18 patients with SERPINF1 gene variants leading to severe progressive deforming OI, the largest series in the world to date. These patients were normal at birth...

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Detalles Bibliográficos
Autores principales: Selina, Agnes, Kandagaddala, Madhavi, Kumar, Vignesh, Abraham, Suneetha Susan Cleave, Danda, Sumita, Madhuri, Vrisha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10323215/
https://www.ncbi.nlm.nih.gov/pubmed/37425194
http://dx.doi.org/10.1016/j.bonr.2023.101690

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