{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T22:28:54Z","timestamp":1790548134788,"version":"4.1.0"},"reference-count":64,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hamostaseologie"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thrombocytopenia absent radius (TAR) syndrome is a rare form of hereditary thrombocytopenia associated with a bilateral radial aplasia. TAR syndrome is genetically defined by the combination of a microdeletion on chromosome 1 which includes the gene RBM8A, and a single nucleotide polymorphism (SNP) in the second RBM8A allele. While most patients with TAR syndrome harbor a SNP in either the 5\u2032 UTR region or in intron 1 of RBM8A, further SNPs associated with TAR syndrome are still being identified. Here, we report on the current understanding of the genetic basis, diagnosis, and therapy of TAR syndrome and discuss patient self-empowerment by enabling networking and exchange between affected individuals and families.<\/jats:p>","DOI":"10.1055\/a-2088-1801","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T22:33:10Z","timestamp":1692829990000},"page":"252-260","source":"Crossref","is-referenced-by-count":7,"title":["Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment"],"prefix":"10.1055","volume":"43","author":[{"given":"Gabriele","family":"Strauss","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology and Oncology, Helios-Klinikum Buch, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3223-6857","authenticated-orcid":false,"given":"Kristina","family":"Mott","sequence":"additional","affiliation":[{"name":"Institute of Experimental Biomedicine I, University Hospital W\u00fcrzburg, W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Klopocki","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of W\u00fcrzburg, W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1285-6407","authenticated-orcid":false,"given":"Harald","family":"Schulze","sequence":"additional","affiliation":[{"name":"Institute of Experimental Biomedicine I, University Hospital W\u00fcrzburg, W\u00fcrzburg, Germany"},{"name":"Center for Rare Blood Cell Disorders, Center for Rare Diseases, University Hospital W\u00fcrzburg, W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1182\/blood.V14.4.374.374","article-title":"Congenital hypoplastic thrombocytopenia with skeletal deformities in siblings","volume":"14","author":"S Shaw","year":"1959","journal-title":"Blood"},{"key":"ref2","first-page":"1245","article-title":"Congenital essential thrombocytopenia","volume":"38","author":"H M Greenwald","year":"1929","journal-title":"Am J Dis Child"},{"issue":"06","key":"ref3","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1097\/00005792-196948060-00001","article-title":"Thrombocytopenia with absent radius (TAR)","volume":"48","author":"J G Hall","year":"1969","journal-title":"Medicine (Baltimore)"},{"issue":"02","key":"ref4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1136\/jmg.24.2.79","article-title":"Thrombocytopenia and absent radius (TAR) syndrome","volume":"24","author":"J G Hall","year":"1987","journal-title":"J Med Genet"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1097\/00043426-198821000-00010","article-title":"Thrombocytopenia with absent radii. 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thesis"}],"container-title":["H\u00e4mostaseologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2088-1801.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T22:33:56Z","timestamp":1692830036000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2088-1801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":64,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2023,8,23]]},"published-print":{"date-parts":[[2023,8]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2088-1801","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0720-9355","2567-5761"],"issn-type":[{"value":"0720-9355","type":"print"},{"value":"2567-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8]]}}}