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Article

Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.

European journal of medical genetics - 1 Nov 2023

Storoni Silvia, Celli Luca, Zhytnik Lidiia, Maasalu Katre, Märtson Aare, Kõks Sulev, Khmyzov Sergey, Pashenko Andrei, Maugeri Alessandra, Zambrano Anna, Celli Mauro, Eekhoff Elisabeth M W, Micha Dimitra

Abstract excerpt

Pathogenic variants in SPARC cause a rare autosomal recessive form of osteogenesis imperfecta (OI), classified as OI type XVII, which was first reported in 2015. Only six patient cases with this specific form of OI have been reported to date. The SPARC protein plays a crucial role in the calcification of collagen in bone, synthesis of the extracellular matrix, and the regulation of cell shape. In this case...

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PMID: 37758164
DOI: 10.1016/j.ejmg.2023.104857

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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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