A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia

A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia

This case unveils a rare genetic intersection in which autosomal-dominant hereditary hemorrhagic telangiectasia (HHT) and Turner syndrome coexist in a 53-year-old woman. Clinical signs and symptoms included abdominal pain, arteriovenous malformations, and hormonal irregularities. Diagnostic testing...

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Main Authors: Diego Mateo Cornejo Gonzalez, Imran Naeem Aziz, Shreeya Atul Sawant, Reem Yousef Darwish, Joseph Guan
Format: Article
Language:English
Published: American College of Physicians 2025-01-01
Series:Annals of Internal Medicine: Clinical Cases
Online Access:https://www.acpjournals.org/doi/10.7326/aimcc.2024.0746
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