The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome
Hussein Abdul Nabi, Luke Dreher, Jack Hartnett, Ashley Crossley, Hussein El Ghandour, Mayowa Osundiji, Hicham El Masry, Chadi Ayoub, Fadi E Shamoun, Linnea M Baudhuin, Suraiya Saleem · 2026
Read The Role of Genetic Variation in Phenotypic Variability in Loeys–Dietz Syndrome by Hussein Abdul Nabi, Luke Dreher, Jack Hartnett, Ashley Crossley, Hussein El Ghandour, Mayowa Osundiji, Hicham El Masry, Chadi Ayoub, Fadi E Shamoun, Linnea M Baudhuin, Suraiya Saleem (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/pmc-13547592.txt.
Description
Hussein Abdul Nabi and co-authors compare how Loeys-Dietz syndrome plays out across its gene types, in this 2026 study. The inherited disorder weakens connective tissue and threatens the aorta, and it arises from faults in a family of growth-signal genes. The team reviewed adults with proven gene faults seen at Mayo Clinic sites over six years.
Ninety-three patients split across three faulty genes. Heart surgery rates were high and alike in all groups, and deaths did not differ. Two gene groups trended toward more aortic swelling and tearing. The third group stood out for a leaky mitral valve, nerve damage in the limbs, and joint wear. One gene group also showed a new link to migraine and more kidney artery swelling. The authors back gene-guided watch plans.
Catalog record
| CREATOR | Hussein Abdul Nabi, Luke Dreher, Jack Hartnett, Ashley Crossley, Hussein El Ghandour, Mayowa Osundiji, Hicham El Masry, Chadi Ayoub, Fadi E Shamoun, Linnea M Baudhuin, Suraiya Saleem |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 37 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |