ArticleEJHaem2026
A Novel GDF2 Mutation in a Patient With Hereditary Hemorrhagic Telangiectasia Complicated by Acute Cerebral Infarction.
Article in EJHaem, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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10 authors.
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Abstract
Introduction: 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. Case Report: We report a 64-year-old 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. Conclusion: This case broadens the known clinical spectrum of HHT associated with GDF2 variants.
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