Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency
David M. Matea, Smaranda T. Arghirescu, Adela Chirita-Emandi, Patricia Urtila, Mihaela Bataneant · 2026
Read Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency by David M. Matea, Smaranda T. Arghirescu, Adela Chirita-Emandi, Patricia Urtila, Mihaela Bataneant (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13574919.txt.
Description
David M Matea and four colleagues report two Romanian patients with a rare inherited immune disorder in 2026. The condition stems from faults in the TRNT1 gene and brings a form of anaemia, weak immunity, fevers, and slow development. Gene testing confirmed the diagnosis in both patients.
Both patients showed the blood and immune features of the syndrome, plus a distinctive facial pattern described in the report. One patient also carried inherited antithrombin III deficiency, a clotting disorder, and suffered gut ischaemia plus bleeding in the brain. The authors note the wide range of severity in this syndrome. They add that the role of TRNT1-linked inflammation in the vessel problems stays unclear.
Catalog record
| CREATOR | David M. Matea, Smaranda T. Arghirescu, Adela Chirita-Emandi, Patricia Urtila, Mihaela Bataneant |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 5725 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |