{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:25:18Z","timestamp":1786976718858,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T00:00:00Z","timestamp":1461024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Child abuse is a major public health concern that can explain a proportion of fractures in children. Osteogenesis imperfecta (OI) is the most common inherited syndrome that predisposes to skeletal fractures. We conducted a retrospective analysis of data from clinical, laboratory, and radiographic information from children evaluated for child abuse in which molecular testing for\n                      <jats:italic>COL1A1<\/jats:italic>\n                      and\n                      <jats:italic>COL1A2<\/jats:italic>\n                      genes was conducted. A total of 43 patients underwent molecular testing for OI. Pathogenic variants predicted to result in a mild form of OI were found in two patients (5%), both clinically suspected to have this diagnosis. None of the cases in whom OI molecular testing was ordered when maltreatment concerns were thought to be more likely (0\/35) were identified to have pathogenic variants. After reviewing each individual case, the final diagnosis was child abuse for 34 cases (77%), and additional radiographic and laboratory studies did not identify any with inherited metabolic predisposition to fracture or rickets. We conclude that routine testing for OI in the setting of child abuse when no other suggestive clinical findings are present has a low yield. A careful review of the medical history and a detailed clinical evaluation help identify those at risk for genetic alterations. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37664","type":"journal-article","created":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T07:59:15Z","timestamp":1461052755000},"page":"1858-1862","source":"Crossref","is-referenced-by-count":22,"title":["<i>COL1A1<\/i>\n                    and\n                    <i>COL1A2<\/i>\n                    sequencing results in cohort of patients undergoing evaluation for potential child abuse"],"prefix":"10.1002","volume":"170","author":[{"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Clingenpeel","sequence":"additional","affiliation":[{"name":"Center for Children at Risk Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A.","family":"Sellars","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyu","family":"Tang","sequence":"additional","affiliation":[{"name":"Biostatistics Program Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie A.","family":"Kaylor","sequence":"additional","affiliation":[{"name":"Molecular Genetic Pathology Arkansas Children's Hospital Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Bosanko","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism Department of Pediatrics University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leann E.","family":"Linam","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Medicine (Medical Genetics) University of Washington Seattle 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