{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T01:36:33Z","timestamp":1776648993065,"version":"3.51.2"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T00:00:00Z","timestamp":1753228800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,7,23]],"date-time":"2025-07-23T00:00:00Z","timestamp":1753228800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Osteogenesis imperfecta (OI) is a heterogeneous group of genetic diseases characterized by bone fragility and low bone mass. We report the identification of two unrelated families with OI of Bashkir origin\u2014one with homozygous, the other with compound heterozygous probably pathogenic variants of the\n                    <jats:italic>P3H1<\/jats:italic>\n                    gene, as well as one case of heterozygous carriage in a patient with clinical manifestations that do not correspond in severity to type VIII OI. Thus, an ethnospecific previously undescribed population aspect of the prevalence of recessive pathogenic variants p.Glu351Ter, p.Gly650Arg, 1720\u2009+\u20094G&gt;A in the\n                    <jats:italic>P3H1<\/jats:italic>\n                    gene associated with various clinical phenotypes has been identified.\n                  <\/jats:p>","DOI":"10.1111\/cge.70031","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T04:14:20Z","timestamp":1753330460000},"page":"341-345","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare Variants in the\n                    <scp>\n                      <i>P3H1<\/i>\n                    <\/scp>\n                    Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6975-5151","authenticated-orcid":false,"given":"Aliya Ramilevna","family":"Zaripova","sequence":"first","affiliation":[{"name":"Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences  Ufa Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8981-688X","authenticated-orcid":false,"given":"Dina Dayanovna","family":"Nadyrshina","sequence":"additional","affiliation":[{"name":"Bashkir State Medical University  Ufa Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0841-3024","authenticated-orcid":false,"given":"Anton Victorovich","family":"Tyurin","sequence":"additional","affiliation":[{"name":"Bashkir State Medical University  Ufa Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1643-3719","authenticated-orcid":false,"given":"Diana Ildarovna","family":"Valeeva","sequence":"additional","affiliation":[{"name":"Bashkir State Medical University  Ufa Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5965-2108","authenticated-orcid":false,"given":"Karina Ericovna","family":"Akhiiarova","sequence":"additional","affiliation":[{"name":"Bashkir State Medical University  Ufa Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6902-253X","authenticated-orcid":false,"given":"Elena Sergeevna","family":"Merkurieva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2672-6294","authenticated-orcid":false,"given":"Tatiana Vladimirovna","family":"Markova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yekaterina Yurievna","family":"Zakharova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8643-850X","authenticated-orcid":false,"given":"Rita Igorevna","family":"Khusainova","sequence":"additional","affiliation":[{"name":"Bashkir State Medical University  Ufa 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