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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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Literature Corpus work
0df28998-e180-5707-bdb2-f0e180d1d58f
DOI
10.20944/preprints202501.1506.v1
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Possible Redox Homeostasis Break-Down in Beals-Hecht Syndrome. Preliminary FindingsDOI 10.20944/preprints202501.1506.v1
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