An Uncommon Case of Siblings With Homozygous Prothrombin G20210A Pathological Variant Expressing as Unique Manifestations

Heterozygous carriers of the prothrombin gene G20210A pathogenic variant (PV), with a 1.7% to 3% prevalence, experience a 3-fold increase in risk for thrombosis. Homozygosity for the prothrombin G20210A PV is much less common, with a prevalence of 0.014%, and further increases the risk for thrombosi...

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Bibliographic Details
Main Authors: Tyler Tepfenhart, Chakrapani Pathikonda, Tauqeer Yousuf
Format: Article
Language:English
Published: American College of Physicians 2025-02-01
Series:Annals of Internal Medicine: Clinical Cases
Online Access:https://www.acpjournals.org/doi/10.7326/aimcc.2024.0541
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