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

This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857

Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research