Publications by authors named "Jason M Chibuk"
Article Synopsis
- Hereditary haemorrhagic telangiectasia (HHT) is an inherited disorder caused by mutations in specific genes (ACVRL1, ENG, SMAD4) and is characterized by abnormal blood vessel formations.
- Patients typically display small arteriovenous malformations (AVMs) on the skin and in the gastrointestinal tract, along with larger AVMs in vital organs like the lungs and brain, but symptoms can vary widely.
- The report highlights two unique cases of patients with no family history of HHT, who are mosaic for gene mutations and emphasize the importance of recognizing genetic mosaicism in diagnosing and testing for HHT.
