{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,10]],"date-time":"2026-05-10T10:03:54Z","timestamp":1778407434538,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T00:00:00Z","timestamp":1603497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["306861\/2019\u20104"],"award-info":[{"award-number":["306861\/2019\u20104"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) type VIII (OMIM: 610915) is a rare autosomal recessive disorder characterized by white sclerae, severe growth deficiency, and bone fragility. This condition results from pathogenic variants of <jats:italic>P3H1<\/jats:italic>, a gene that codes for P3H1, an important protein involved in the prolyl\u20103\u2010hydroxylation complex required for collagen type I folding. Here, we described a woman with OI type VIII due to a homozygous mutation of c.1914+1G&gt;C (NM_001243246.1) in <jats:italic>P3H1<\/jats:italic> and retinal detachment. We compared our case to five severe OI and retinal detachment cases reported in the literature. The only case previously reported with a molecular diagnosis had a similar mutation in <jats:italic>P3H1<\/jats:italic> c.1914+1G&gt;A and a giant retinal detachment. We suggest that individuals with OI type VIII should be submitted to careful fundoscopic examination.<\/jats:p>","DOI":"10.1002\/ajmg.a.61934","type":"journal-article","created":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T09:11:39Z","timestamp":1603530699000},"page":"238-241","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A new case of osteogenesis imperfecta type VIII and retinal detachment"],"prefix":"10.1002","volume":"185","author":[{"given":"Liliane Todeschini","family":"de Souza","sequence":"first","affiliation":[{"name":"Genomic Medicine Laboratory Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo Rodrigues","family":"Nunes","sequence":"additional","affiliation":[{"name":"Retina Center Clinic  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Otavio","family":"de Azevedo Magalh\u00e3es","sequence":"additional","affiliation":[{"name":"Porto Alegre Eye Bank Hospital  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8401-6821","authenticated-orcid":false,"given":"T\u00eamis","family":"Maria F\u00e9lix","sequence":"additional","affiliation":[{"name":"Genomic Medicine Laboratory Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre  Porto Alegre Brazil"},{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.4238\/2015.December.1.36"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1968"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.44"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006982-200602000-00028"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000000527"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0b013e3181babe6c"},{"key":"e_1_2_4_8_1","doi-asserted-by":"crossref","first-page":"268","DOI":"10.3928\/0191-3913-19940701-17","article-title":"Retinal detachment in osteogenesis imperfecta","volume":"31","author":"Madigan W. P.","year":"1994","journal-title":"Journal of Pediatric Ophthalmology and Strabismus"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0000000000001764"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-009-0872-0"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000117"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.21"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0521-0"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2020.03.004"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-gmb-2018-0043"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.068726"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61934","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61934","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61934","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:03:43Z","timestamp":1693811023000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61934"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,24]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/ajmg.a.61934"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61934","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,24]]},"assertion":[{"value":"2020-08-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}