Possible break-down of redox homeostasis in Beals-Hecht syndrome

Possible break-down of redox homeostasis in Beals-Hecht syndrome

Abstract Beals-Hecht (BH) syndrome is a rare autosomal dominant disorder caused by a mutation of the FBN-2 gene that codifies for fibrillin-2 (FBN-2). Its nosology includes congenital contractural arachnodactyly. The aim of this study was to evaluate the possible breakdown of redox homeostasis in th...

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Bibliographic Details
Main Authors: María Elena Soto, Linaloe Manzano-Pech, Verónica Guarner-Lans, Israel Pérez-Torres
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
Subjects:
Beals-Hecht syndrome
Oxidative stress
Redox homeostasis
Antioxidant enzymes
FBN-2
Online Access:https://doi.org/10.1038/s41598-025-03135-z
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