{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:23:48Z","timestamp":1787847828960,"version":"build-2784847793"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,5]],"date-time":"2021-02-05T00:00:00Z","timestamp":1612483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Glanzmann\u2019s thrombasthenia (GT) is an autosomal recessive congenital bleeding disorder of platelet aggregation. Mutations in\n                      <jats:italic toggle=\"yes\">ITGA2B<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">ITGB3<\/jats:italic>\n                      genes result in quantitative and\/or qualitative abnormalities of the glycoprotein receptor complex IIb\/IIIa (integrin \u03b1IIb\u03b23), which in turn impairs platelet aggregation and lead to GT. In this study, whole genome single nucleotide polymorphism (SNP) genotyping as well as whole exome sequencing was performed in a large family segregating GT. Analysis of the genotypes localized the disease region to chromosome 17q21.2\u2013q21.3. Filtration of whole exome data and candidate variants prioritization identified a pathogenic variant in the\n                      <jats:italic toggle=\"yes\">ITGB3<\/jats:italic>\n                      gene. The single nucleotide deletion variant (c.2113delC) in exon 13 of the\n                      <jats:italic toggle=\"yes\">ITGB3<\/jats:italic>\n                      gene is predicted to cause a frameshift and absence of vital C-terminal domains including the transmembrane helix and the cytoplasmic domain. Clinical variability of the bleeding phenotype in affected individuals with the same mutation suggests that other genetic and nongenetic factors are responsible for determining GT features.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.hemonc.2021.01.003","type":"journal-article","created":{"date-parts":[[2021,2,10]],"date-time":"2021-02-10T21:26:49Z","timestamp":1612992409000},"page":"21-26","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann\u2019s Thrombasthenia in a Saudi Arabian Family"],"prefix":"10.4103","volume":"15","author":[{"given":"Asma","family":"Alharbi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamil A.","family":"Hashmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Essa","family":"Alharby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alia M.","family":"Albalawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khushnooda","family":"Ramzan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-4-20241211","first-page":"1","article-title":"Hereditare Hamorrhagische thrombasthenic. 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