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

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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Bibliographic Details
Main Authors: Agnes Selina, Madhavi Kandagaddala, Vignesh Kumar, Suneetha Susan Cleave Abraham, Sumita Danda, Vrisha Madhuri
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Bone Reports
Subjects:
Osteogenesis imperfecta
SERPINF1 gene
Pigment epithelium-derived factor (PEDF) mineralization defect
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187223000384

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