{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:26:16Z","timestamp":1790807176885,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,5,30]],"date-time":"2014-05-30T00:00:00Z","timestamp":1401408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003227","name":"Osteogenesis Imperfecta Foundation","doi-asserted-by":"publisher","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/100003227","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>Osteogenesis imperfecta (<jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities. In spite of significant advances in understanding the genetic basis of <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>, there have been no large\u2010scale natural history studies. To better understand the natural history and improve the care of patients, a network of Linked Clinical Research Centers (<jats:styled-content style=\"fixed-case\">LCRC<\/jats:styled-content>) was established. Subjects with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> were enrolled in a longitudinal study, and in this report, we present cross\u2010sectional data on the largest cohort of <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> subjects (<jats:italic>n<\/jats:italic>\u2009=\u2009544). <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> type <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> subjects had higher prevalence of dentinogenesis imperfecta, severe scoliosis, and long bone deformities as compared to those with <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> types I and <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content>. Whereas the mean lumbar spine area bone mineral density (<jats:styled-content style=\"fixed-case\">LS aBMD<\/jats:styled-content>) was low across all <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> subtypes, those with more severe forms had lower bone mass. Molecular testing may help predict the subtype in type I collagen\u2010related <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>. Analysis of such well\u2010collected and unbiased data in <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> can not only help answering questions that are relevant to patient care but also foster hypothesis\u2010driven research, especially in the context of \u2018phenotypic expansion\u2019 driven by next\u2010generation sequencing.<\/jats:p>","DOI":"10.1111\/cge.12409","type":"journal-article","created":{"date-parts":[[2014,4,22]],"date-time":"2014-04-22T16:59:30Z","timestamp":1398185970000},"page":"133-140","source":"Crossref","is-referenced-by-count":72,"title":["A cross\u2010sectional multicenter study of\u00a0osteogenesis imperfecta in North America\u00a0\u2013\u00a0results from the linked clinical research centers"],"prefix":"10.1111","volume":"87","author":[{"given":"R.M.","family":"Patel","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX 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