Extreme Phenotypic Variability of ACTG1‐Related Disorders in Hearing Loss
Maria T Bernardi, Memoona Ramzan, Laura Calderon, Franco Salvatore, Maria Agustina De Rosa, Stephanie Bivona, Romina Armando, Natalia Vazquez, Maria Esnaola Azcoiti, Marcelo A Marti, Claudia Arberas, Maria Gabriela Ropelato, Silvina Olha, Byron L Lam, Fred F Telischi, Mustafa Tekin, Katherina Walz · 2024
Read Extreme Phenotypic Variability of ACTG1‐Related Disorders in Hearing Loss by Maria T Bernardi, Memoona Ramzan, Laura Calderon, Franco Salvatore, Maria Agustina De Rosa, Stephanie Bivona, Romina Armando, Natalia Vazquez, Maria Esnaola Azcoiti, Marcelo A Marti, Claudia Arberas, Maria Gabriela Ropelato, Silvina Olha, Byron L Lam, Fred F Telischi, Mustafa Tekin, Katherina Walz (2024) 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-11672310.txt.
Description
Maria Bernardi and co-authors present a 2024 report on two patients with gene linked hearing loss. Hearing loss is the most common sense defect in humans. Faults in one gene that builds a cell scaffold protein can cause a named syndrome, lone deafness, or mixed forms that fit neither frame.
The two patients are not kin, and both carry forms of that gene fault. Severe hearing loss is the trait they share. Past that trait, their clinical pictures split in clear ways. One fits closer to the named syndrome, while the other does not. The authors say the pair backs the wide range of this gene's effects. Gene tests can help sort such cases when signs alone mislead.
Catalog record
| CREATOR | Maria T Bernardi, Memoona Ramzan, Laura Calderon, Franco Salvatore, Maria Agustina De Rosa, Stephanie Bivona, Romina Armando, Natalia Vazquez, Maria Esnaola Azcoiti, Marcelo A Marti, Claudia Arberas, Maria Gabriela Ropelato, Silvina Olha, Byron L Lam, Fred F Telischi, Mustafa Tekin, Katherina Walz |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |