Article

Possible Break-Down of Redox Homeostasis in Beals-Hecht Syndrome

2025-03-06

Abstract excerpt

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) and its nosology includes 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 study was to eval...

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Literature Corpus work: 7835ffa9-9e6f-504b-89e8-88f8c77d1806
DOI: 10.20944/preprints202503.0400.v1

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