Article
Possible Redox Homeostasis Break-Down in Beals-Hecht Syndrome. Preliminary Findings
2025-01-21
Abstract excerpt
Beals-Hecht (BH) syndrome is a rare autosomal dominant disorder caused by a mutation of the FBN2 gene that codifies for fibrillin-2 (FBN-2) and part of its nosology is congenital contractural arachnodactyly. There is no information in the literature on whether there is increased oxidative stress (OS) in these patients that could lead to a break-down in the redox balance. Therefore, the aim of this preliminary stud...
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Identifiers and source
- Literature Corpus work
- 0df28998-e180-5707-bdb2-f0e180d1d58f
- DOI
- 10.20944/preprints202501.1506.v1
