High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.

doi:10.1002/ajh.26304

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Article

High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.

American journal of hematology - 1 Nov 2021

de la Morena-Barrio María E, Gindele Réka, Bravo-Pérez Carlos, Ilonczai Péter, Zuazu Isabel, Speker Marianna, Oláh Zsolt, Rodríguez-Sevilla Juan J, Entrena Laura, Infante Maria S, de la Morena-Barrio Belén, García José M, Schlammadinger Ágota, Cifuentes-Riquelme Rosa, Mora-Casado Asunción, Miñano Antonia, Padilla Jose, Vicente Vicente, Corral Javier, Bereczky Zsuzsanna

Abstract excerpt

Atresia of inferior vena cava (IVC) is a rare congenital malformation associated with high risk of venous thrombosis that still has unknown etiology, although intrauterine IVC thrombosis has been suggested to be involved. The identification of IVC atresia in a case with early idiopathic venous thrombosis and antithrombin deficiency caused by the homozygous SERPINC1 c.391C > T variant (p.Leu131Phe; antithrombin...

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PMID: 34324211
DOI: 10.1002/ajh.26304

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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