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Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?

Calcified tissue international - 1 Jan 2023

Amorim Débora Meira Ramos, Koga Gustavo Kendy Camargo, Dos Santos Rodrigo Nolasco, Secundo Paulo Fernando Carvalho, de Ávila Fernandes Eloy, Cardili Leonardo, Maeda Sergio Setsuo, da Rocha Corrêa Fernandes Artur, Lazaretti-Castro Marise

Abstract excerpt

Osteogenesis imperfecta (OI) type VI is a rare inherited disorder of the connective tissue caused by pathogenic variants in SERPINF1 gene, which encodes the pigment epithelium-derived factor (PEDF). PEDF is implicated in many biologic processes, including an anti-cancer role. This information is supported by in vitro and in vivo studies that evidenced its anti-angiogenic, anti-tumorigenic, and anti-metastatic...

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PMID: 36322168
DOI: 10.1007/s00223-022-01033-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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