{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T05:11:46Z","timestamp":1770873106642,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T00:00:00Z","timestamp":1766880000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T00:00:00Z","timestamp":1766880000000},"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":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Geroderma osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder. It presents with progeroid craniofacial features, lax skin, hypermobile joints, and osteoporosis. GO arises from pathogenic variants in\n                    <jats:italic>GORAB<\/jats:italic>\n                    that disrupt Golgi apparatus function and extracellular matrix organization. This narrative review synthesizes the current evidence on its clinical presentation, differential diagnosis, molecular basis, and treatment. Management is largely supportive and interdisciplinary, involving orthopedic, dental, and physiotherapeutic care. Therapeutic intervention focuses on preventing bone density loss and decreasing fracture risk with bisphosphonates and vitamin D supplementation. Improved understanding of GO through larger cohort studies and care protocols is needed to improve patient outcomes and guide translational research.\n                  <\/jats:p>","DOI":"10.1111\/cge.70132","type":"journal-article","created":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T04:27:54Z","timestamp":1766982474000},"page":"416-423","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management"],"prefix":"10.1111","volume":"109","author":[{"given":"Naim","family":"Slaiby","sequence":"first","affiliation":[{"name":"Department of Human Genetics Lebanese American University Medical Center\u2010Rizk Hospital  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raphael","family":"Asmar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Saint Joseph University of Beirut  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christele","family":"Asmar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Saint Joseph University of Beirut  Beirut Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terry","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0932-4362","authenticated-orcid":false,"given":"Charbel G.","family":"Saad","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Lebanese American University Medical Center\u2010Rizk Hospital  Beirut Lebanon"},{"name":"Department of Plastic and Reconstructive Surgery Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,28]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100041\u20101740468"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.252"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.12.854"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1352"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525\u20101470.2006.00285.x"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2007.09.037"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm13111578"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470224"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32143"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096\u20108628(19960503)63:1<62::Aid\u2010ajmg13>3.0.Co;2\u2010s"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030410"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.1973.tb01141.x"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1155\/crig\/1397713"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272192"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1590\/s1415\u201047572005000200001"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010019\u20101189\u2010z"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010090314\u2010050039"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD005324.pub2"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.2008.01145.x"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.08.002"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18030635"},{"issue":"3","key":"e_1_2_14_23_1","first-page":"305","article-title":"Dwarfism, Oligophrenia and Degeneration of the Elastic Tissue in Skin and Cornea. 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