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We report an 11\u2010year\u2010old individual who presented with multiple fractures of the long bones of the upper and lower extremities, severe osteopenia, and skeletal deformities. Whole exome sequencing revealed compound heterozygous variants c.[\u201037C&gt;A];[829_831del] in\n                    <jats:italic>SERPINF1<\/jats:italic>\n                    . To determine the functional consequence of the variants, quantitative real\u2010time PCR and immunoblotting analyses in patient\u2010derived fibroblasts were performed, which showed reduced expression of\n                    <jats:italic>SERPINF1<\/jats:italic>\n                    transcript and protein levels.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70020","type":"journal-article","created":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T08:40:31Z","timestamp":1765269631000},"page":"966-970","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Impaired\n                    <scp>\n                      <i>SERPINF1<\/i>\n                    <\/scp>\n                    Expression due to c.[\u2010\n                    <scp>37C<\/scp>\n                    &gt;A];[829_831del] Causes Osteogenesis Imperfecta\n                    <scp>VI<\/scp>"],"prefix":"10.1002","volume":"200","author":[{"given":"Vaishnavi 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