{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:54:06Z","timestamp":1791050046950,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T00:00:00Z","timestamp":1790985600000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"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":["eJHaem"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease and the growth differentiation factor 2 (GDF2) variants have been identified as an infrequent cause of HHT.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Report<\/jats:title>\n                    <jats:p>We report a 64\u2010year\u2010old female patient with an onset of ischemic stroke suspected related with microscopic pulmonary arteriovenous malformations. She had cutaneous vascular lesions, a history of spontaneous recurrent epistaxis, and a family history with her mother exhibiting similar clinical manifestations. The patient was diagnosed with HHT and subsequently found to have a novel heterozygous frameshift mutation of GDF2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case broadens the known clinical spectrum of HHT associated with GDF2 variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jha2.70404","type":"journal-article","created":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:29:32Z","timestamp":1791048572000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel GDF2 Mutation in a Patient With Hereditary Hemorrhagic Telangiectasia Complicated by Acute Cerebral Infarction"],"prefix":"10.1002","volume":"7","author":[{"given":"Huaqin","family":"Zuo","sequence":"first","affiliation":[{"name":"Department of Hematology Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingling","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Hematology Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Jing","sequence":"additional","affiliation":[{"name":"Department of Neurology Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Chen","sequence":"additional","affiliation":[{"name":"Echocardiography Laboratory Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiulan","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Hematology Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Hematology Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Hematology Northern Jiangsu People's Hospital Affiliated to Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,3]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"989","DOI":"10.7326\/M20-1443","article-title":"Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia","volume":"173","author":"Faughnan M. E.","year":"2020","journal-title":"Annals of Internal Medicine"},{"key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1182\/blood.2019004560","article-title":"Mutational and Phenotypic Characterization of Hereditary Hemorrhagic Telangiectasia","volume":"136","author":"Shovlin C. L.","year":"2020","journal-title":"Blood"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62522"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u20100775\u20108"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201407\u20101254CI"},{"key":"e_1_2_10_7_1","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1378\/chest.06-2356","article-title":"Contrast Echocardiography Grading Predicts Pulmonary Arteriovenous Malformations on CT","volume":"132","author":"Zukotynski K.","year":"2007","journal-title":"Chest"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2016.12.002"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2018.360"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.16128"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001538"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2015.00001"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.010"},{"key":"e_1_2_10_14_1","doi-asserted-by":"crossref","first-page":"5245","DOI":"10.3390\/jcm11175245","article-title":"Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management","volume":"11","author":"Viteri\u2010No\u00ebl A.","year":"2022","journal-title":"Journal of Clinical Medicine"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62584"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.004"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70404","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jha2.70404","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.70404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:29:33Z","timestamp":1791048573000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.70404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/jha2.70404"],"URL":"https:\/\/doi.org\/10.1002\/jha2.70404","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"value":"2688-6146","type":"print"},{"value":"2688-6146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"2026-06-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70404"}}