{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:25:29Z","timestamp":1790807129367,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Autosomal recessive osteogenesis imperfecta (AR\u2010OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations in patients from 10 unrelated families with AR\u2010OI, one of whom was presented with the additional features of Bruck syndrome (BS). Pathogenic changes were identified in five different genes: three families had mutations in <jats:italic>FKBP10<\/jats:italic>, three in <jats:italic>SERPINF1<\/jats:italic>, two in <jats:italic>LEPRE1<\/jats:italic>, one in <jats:italic>CRTAP<\/jats:italic>, and one in <jats:italic>PPIB<\/jats:italic>. With the exception of a <jats:italic>FKBP10<\/jats:italic> mutation in the BS case, all changes are novel. Of note, insertion of an AluYb8 repetitive element was detected in exon 6 of <jats:italic>SERPINF1<\/jats:italic>. Since the studied patients had variable manifestations and some distinctive features, genotype\/phenotype correlations are suggested. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35938","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T21:52:53Z","timestamp":1366753973000},"page":"1354-1369","source":"Crossref","is-referenced-by-count":52,"title":["Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype\u2013phenotype correlations"],"prefix":"10.1002","volume":"161","author":[{"given":"Jos\u00e9 A.","family":"Caparr\u00f3s\u2010Martin","sequence":"first","affiliation":[{"name":"Instituto de Investigaciones Biom\u00e9dicas Consejo Superior de Investigaciones Cient\u00edficas\u2010Universidad Aut\u00f3noma de Madrid Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) 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